17-27250983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27250983
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27250983
    reference: chr 17
allele count: 1
allele frequency: 8.657708823936834e-6
allele num: 115504
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.659G>A
  hgvsp: ENSP00000329933.4:p.Arg220Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.659G>A
  hgvsp: ENSP00000368157.3:p.Arg220Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3341G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.389G>A
  hgvsp: ENSP00000468478.1:p.Arg130Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.695G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.659G>A
  hgvsp: ENSP00000465161.1:p.Arg220Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.659G>A
  hgvsp: ENSP00000268756.3:p.Arg220Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2157G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.558G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16108
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg220Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

17-27250993-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27250993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27250993
    reference: chr 17
allele count: 1
allele frequency: 8.517887563884156e-6
allele num: 117400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.379G>A
  hgvsp: ENSP00000468478.1:p.Ala127Thr
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.548G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.649G>A
  hgvsp: ENSP00000268756.3:p.Ala217Thr
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2167G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.649G>A
  hgvsp: ENSP00000368157.3:p.Ala217Thr
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.649G>A
  hgvsp: ENSP00000465161.1:p.Ala217Thr
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3331G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.649G>A
  hgvsp: ENSP00000329933.4:p.Ala217Thr
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.685G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala217Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

17-27250994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27250994
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27250994
    reference: chr 17
allele count: 5
allele frequency: 4.250544069640914e-5
allele num: 117632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3330C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2168C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.648C>T
  hgvsp: ENST00000577226.1:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.684C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.378C>T
  hgvsp: ENST00000578900.2:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.648C>T
  hgvsp: ENST00000268756.3:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.648C>T
  hgvsp: ENST00000378879.3:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.547C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.648C>T
  hgvsp: ENST00000332830.4:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17381
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala216Ala
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-27251014-AGGGCCGCCTCAGCTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251014
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27250999
    reference: chr 17
allele count: 1
allele frequency: 8.340283569641367e-6
allele num: 119900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsp: ENSP00000465161.1:p.Gln205_Pro209del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsp: ENSP00000368157.3:p.Gln205_Pro209del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsp: ENSP00000329933.4:p.Gln205_Pro209del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsp: ENSP00000268756.3:p.Gln205_Pro209del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsp: ENSP00000468478.1:p.Gln115_Pro119del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln205_Pro209del
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: AGGGCCGCCTCAGCTG
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-27251020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251020
    reference: chr 17
allele count: 1
allele frequency: 8.313934153641504e-6
allele num: 120280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3304C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.622C>T
  hgvsp: ENSP00000465161.1:p.Arg208Trp
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.352C>T
  hgvsp: ENSP00000468478.1:p.Arg118Trp
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2194C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.622C>T
  hgvsp: ENSP00000268756.3:p.Arg208Trp
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.658C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.622C>T
  hgvsp: ENSP00000368157.3:p.Arg208Trp
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.521C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.622C>T
  hgvsp: ENSP00000329933.4:p.Arg208Trp
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg208Trp
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

17-27251020-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251020
    reference: chr 17
allele count: 1
allele frequency: 8.313934153641504e-6
allele num: 120280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.658C>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.521C>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3304C>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.622C>A
  hgvsp: ENST00000577226.1:c.622C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.622C>A
  hgvsp: ENST00000268756.3:c.622C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.622C>A
  hgvsp: ENST00000378879.3:c.622C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.352C>A
  hgvsp: ENST00000578900.2:c.352C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.622C>A
  hgvsp: ENST00000332830.4:c.622C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2194C>A
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19689
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg208Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

17-27251027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251027
    reference: chr 17
allele count: 3
allele frequency: 2.487809732311673e-5
allele num: 120588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.345G>A
  hgvsp: ENST00000578900.2:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.514G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3297G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.615G>A
  hgvsp: ENST00000577226.1:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.615G>A
  hgvsp: ENST00000268756.3:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.615G>A
  hgvsp: ENST00000378879.3:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.615G>A
  hgvsp: ENST00000332830.4:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.651G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2201G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20026
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln205Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

17-27251028-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251028
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251028
    reference: chr 17
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.513A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.344A>T
  hgvsp: ENSP00000468478.1:p.Gln115Leu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.614A>T
  hgvsp: ENSP00000465161.1:p.Gln205Leu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2202A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.614A>T
  hgvsp: ENSP00000268756.3:p.Gln205Leu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.614A>T
  hgvsp: ENSP00000368157.3:p.Gln205Leu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.614A>T
  hgvsp: ENSP00000329933.4:p.Gln205Leu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3296A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.650A>T
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln205Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

17-27251038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251038
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251038
    reference: chr 17
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2212G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.604G>A
  hgvsp: ENSP00000268756.3:p.Val202Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3286G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.604G>A
  hgvsp: ENSP00000368157.3:p.Val202Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.640G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.334G>A
  hgvsp: ENSP00000468478.1:p.Val112Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.604G>A
  hgvsp: ENSP00000465161.1:p.Val202Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.604G>A
  hgvsp: ENSP00000329933.4:p.Val202Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.503G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val202Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

17-27251046-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251046
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251046
    reference: chr 17
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.495C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.326C>G
  hgvsp: ENSP00000468478.1:p.Pro109Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.632C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3278C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.596C>G
  hgvsp: ENSP00000268756.3:p.Pro199Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2220C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.596C>G
  hgvsp: ENSP00000465161.1:p.Pro199Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.596C>G
  hgvsp: ENSP00000368157.3:p.Pro199Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.596C>G
  hgvsp: ENSP00000329933.4:p.Pro199Arg
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro199Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

17-27251051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251051
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251051
    reference: chr 17
allele count: 1
allele frequency: 8.26541913940456e-6
allele num: 120986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.627G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2225G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.591G>A
  hgvsp: ENST00000332830.4:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.591G>A
  hgvsp: ENST00000577226.1:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.490G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.591G>A
  hgvsp: ENST00000378879.3:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.591G>A
  hgvsp: ENST00000268756.3:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3273G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.321G>A
  hgvsp: ENST00000578900.2:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala197Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-27251058-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251058
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251058
    reference: chr 17
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.584T>C
  hgvsp: ENSP00000368157.3:p.Val195Ala
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.314T>C
  hgvsp: ENSP00000468478.1:p.Val105Ala
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.620T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.483T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.584T>C
  hgvsp: ENSP00000268756.3:p.Val195Ala
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.584T>C
  hgvsp: ENSP00000465161.1:p.Val195Ala
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3266T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.584T>C
  hgvsp: ENSP00000329933.4:p.Val195Ala
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2232T>C
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val195Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

17-27251060-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251060
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251060
    reference: chr 17
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.582A>T
  hgvsp: ENST00000577226.1:c.582A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.481A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.582A>T
  hgvsp: ENST00000332830.4:c.582A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.618A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.582A>T
  hgvsp: ENST00000268756.3:c.582A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2234A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3264A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.582A>T
  hgvsp: ENST00000378879.3:c.582A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.312A>T
  hgvsp: ENST00000578900.2:c.312A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro194Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-27251060-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251060
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251060
    reference: chr 17
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.481A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.582A>G
  hgvsp: ENST00000577226.1:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.618A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2234A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.582A>G
  hgvsp: ENST00000378879.3:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.582A>G
  hgvsp: ENST00000332830.4:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.582A>G
  hgvsp: ENST00000268756.3:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3264A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.312A>G
  hgvsp: ENST00000578900.2:c.312A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro194Pro
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-27251074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251074
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251074
    reference: chr 17
allele count: 2
allele frequency: 1.651391297167864e-5
allele num: 121110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3250G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.568G>A
  hgvsp: ENSP00000465161.1:p.Val190Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.568G>A
  hgvsp: ENSP00000368157.3:p.Val190Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.467G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.568G>A
  hgvsp: ENSP00000268756.3:p.Val190Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.298G>A
  hgvsp: ENSP00000468478.1:p.Val100Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.604G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.640G>A
  hgvsp: ENSP00000465017.1:p.Val214Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2248G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.568G>A
  hgvsp: ENSP00000329933.4:p.Val190Met
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val190Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

17-27251075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251075
    reference: chr 17
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.567C>T
  hgvsp: ENST00000577226.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.466C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.567C>T
  hgvsp: ENST00000332830.4:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.567C>T
  hgvsp: ENST00000378879.3:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.639C>T
  hgvsp: ENST00000584685.1:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.297C>T
  hgvsp: ENST00000578900.2:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.567C>T
  hgvsp: ENST00000268756.3:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3249C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.603C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2249C>T
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp189Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

17-27251075-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251075
    reference: chr 17
allele count: 18
allele frequency: 1.486301256750285e-4
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.639C>A
  hgvsp: ENSP00000465017.1:p.Asp213Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.297C>A
  hgvsp: ENSP00000468478.1:p.Asp99Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.567C>A
  hgvsp: ENSP00000268756.3:p.Asp189Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.567C>A
  hgvsp: ENSP00000368157.3:p.Asp189Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2249C>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.603C>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.567C>A
  hgvsp: ENSP00000465161.1:p.Asp189Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3249C>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.466C>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.567C>A
  hgvsp: ENSP00000329933.4:p.Asp189Glu
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21159
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33799
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp189Glu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

17-27251092-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251092
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251092
    reference: chr 17
allele count: 2
allele frequency: 1.651064110819423e-5
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3232G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.550G>A
  hgvsp: ENSP00000268756.3:p.Asp184Asn
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.622G>A
  hgvsp: ENSP00000465017.1:p.Asp208Asn
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.550G>A
  hgvsp: ENSP00000329933.4:p.Asp184Asn
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.449G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.550G>A
  hgvsp: ENSP00000368157.3:p.Asp184Asn
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2266G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.550G>A
  hgvsp: ENSP00000465161.1:p.Asp184Asn
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.586G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.280G>A
  hgvsp: ENSP00000468478.1:p.Asp94Asn
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp184Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-27251093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251093
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251093
    reference: chr 17
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.621C>T
  hgvsp: ENST00000584685.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3231C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.549C>T
  hgvsp: ENST00000577226.1:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.549C>T
  hgvsp: ENST00000268756.3:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.585C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.448C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.549C>T
  hgvsp: ENST00000378879.3:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2267C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.549C>T
  hgvsp: ENST00000332830.4:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.279C>T
  hgvsp: ENST00000578900.2:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val183Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/17-27251096-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251096
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251096
    reference: chr 17
allele count: 3
allele frequency: 2.475901228047009e-5
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.546T>G
  hgvsp: ENSP00000329933.4:p.Asp182Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2270T>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.546T>G
  hgvsp: ENSP00000368157.3:p.Asp182Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.582T>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.445T>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.546T>G
  hgvsp: ENSP00000268756.3:p.Asp182Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.546T>G
  hgvsp: ENSP00000465161.1:p.Asp182Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.276T>G
  hgvsp: ENSP00000467091.1:p.Asp92Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.618T>G
  hgvsp: ENSP00000465017.1:p.Asp206Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3228T>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.276T>G
  hgvsp: ENSP00000468478.1:p.Asp92Glu
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp182Glu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-27251105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251105
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251105
    reference: chr 17
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.267G>A
  hgvsp: ENST00000578900.2:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.267G>A
  hgvsp: ENST00000582853.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.537G>A
  hgvsp: ENST00000577226.1:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.537G>A
  hgvsp: ENST00000268756.3:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.537G>A
  hgvsp: ENST00000378879.3:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3219G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.609G>A
  hgvsp: ENST00000584685.1:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2279G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.573G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.436G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.537G>A
  hgvsp: ENST00000332830.4:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu179Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

17-27251106-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251106
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251106
    reference: chr 17
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.266A>G
  hgvsp: ENSP00000468478.1:p.Glu89Gly
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3218A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.572A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.536A>G
  hgvsp: ENSP00000268756.3:p.Glu179Gly
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.608A>G
  hgvsp: ENSP00000465017.1:p.Glu203Gly
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.536A>G
  hgvsp: ENSP00000465161.1:p.Glu179Gly
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.536A>G
  hgvsp: ENSP00000368157.3:p.Glu179Gly
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.435A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.536A>G
  hgvsp: ENSP00000329933.4:p.Glu179Gly
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2280A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.266A>G
  hgvsp: ENSP00000467091.1:p.Glu89Gly
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu179Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-27251131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251131
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251131
    reference: chr 17
allele count: 3
allele frequency: 2.474920802534319e-5
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.241G>A
  hgvsp: ENSP00000467091.1:p.Ala81Thr
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.547G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.241G>A
  hgvsp: ENSP00000468478.1:p.Ala81Thr
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.511G>A
  hgvsp: ENSP00000268756.3:p.Ala171Thr
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.583G>A
  hgvsp: ENSP00000465017.1:p.Ala195Thr
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.511G>A
  hgvsp: ENSP00000368157.3:p.Ala171Thr
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2305G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.511G>A
  hgvsp: ENSP00000329933.4:p.Ala171Thr
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.410G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3193G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.511G>A
  hgvsp: ENSP00000465161.1:p.Ala171Thr
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala171Thr
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: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-27251132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251132
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251132
    reference: chr 17
allele count: 99
allele frequency: 8.166699663432984e-4
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3192C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.510C>T
  hgvsp: ENST00000577226.1:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.510C>T
  hgvsp: ENST00000268756.3:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2306C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.510C>T
  hgvsp: ENST00000332830.4:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.240C>T
  hgvsp: ENST00000578900.2:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.582C>T
  hgvsp: ENST00000584685.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.510C>T
  hgvsp: ENST00000378879.3:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.409C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.240C>T
  hgvsp: ENST00000582853.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.546C>T
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 32739
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21997
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
hgvs: p.Ser170Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/17-27251133-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251133
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251133
    reference: chr 17
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.581G>T
  hgvsp: ENSP00000465017.1:p.Ser194Ile
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.509G>T
  hgvsp: ENSP00000329933.4:p.Ser170Ile
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.239G>T
  hgvsp: ENSP00000467091.1:p.Ser80Ile
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3191G>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.239G>T
  hgvsp: ENSP00000468478.1:p.Ser80Ile
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.509G>T
  hgvsp: ENSP00000368157.3:p.Ser170Ile
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.509G>T
  hgvsp: ENSP00000465161.1:p.Ser170Ile
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.509G>T
  hgvsp: ENSP00000268756.3:p.Ser170Ile
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.545G>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2307G>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.408G>T
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser170Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

17-27251134-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251134
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251134
    reference: chr 17
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.508A>C
  hgvsp: ENSP00000465161.1:p.Ser170Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.238A>C
  hgvsp: ENSP00000467091.1:p.Ser80Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.238A>C
  hgvsp: ENSP00000468478.1:p.Ser80Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.407A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.508A>C
  hgvsp: ENSP00000329933.4:p.Ser170Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2308A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.508A>C
  hgvsp: ENSP00000368157.3:p.Ser170Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.508A>C
  hgvsp: ENSP00000268756.3:p.Ser170Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.580A>C
  hgvsp: ENSP00000465017.1:p.Ser194Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3190A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.544A>C
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser170Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

17-27251148-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251148
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251148
    reference: chr 17
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.494G>A
  hgvsp: ENSP00000368157.3:p.Gly165Asp
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.494G>A
  hgvsp: ENSP00000465161.1:p.Gly165Asp
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.494G>A
  hgvsp: ENSP00000329933.4:p.Gly165Asp
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.224G>A
  hgvsp: ENSP00000467091.1:p.Gly75Asp
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.566G>A
  hgvsp: ENSP00000465017.1:p.Gly189Asp
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2322G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.393G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.530G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.494G>A
  hgvsp: ENSP00000268756.3:p.Gly165Asp
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3176G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.224G>A
  hgvsp: ENSP00000468478.1:p.Gly75Asp
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly165Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-27251154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251154
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251154
    reference: chr 17
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.387G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.218G>A
  hgvsp: ENSP00000468478.1:p.Arg73Lys
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.488G>A
  hgvsp: ENSP00000368157.3:p.Arg163Lys
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2328G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.218G>A
  hgvsp: ENSP00000467091.1:p.Arg73Lys
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.488G>A
  hgvsp: ENSP00000268756.3:p.Arg163Lys
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.488G>A
  hgvsp: ENSP00000465161.1:p.Arg163Lys
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.560G>A
  hgvsp: ENSP00000465017.1:p.Arg187Lys
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.524G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.488G>A
  hgvsp: ENSP00000329933.4:p.Arg163Lys
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3170G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg163Lys
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

17-27251155-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251155
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251155
    reference: chr 17
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.487A>C
  hgvsp: ENST00000332830.4:c.487A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.386A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.559A>C
  hgvsp: ENST00000584685.1:c.559A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.487A>C
  hgvsp: ENST00000378879.3:c.487A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.487A>C
  hgvsp: ENST00000268756.3:c.487A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3169A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.217A>C
  hgvsp: ENST00000578900.2:c.217A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2329A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.487A>C
  hgvsp: ENST00000577226.1:c.487A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.523A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.217A>C
  hgvsp: ENST00000582853.1:c.217A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg163Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

17-27251178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251178
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251178
    reference: chr 17
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.194G>A
  hgvsp: ENSP00000467091.1:p.Arg65Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.536G>A
  hgvsp: ENSP00000465017.1:p.Arg179Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.464G>A
  hgvsp: ENSP00000465161.1:p.Arg155Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.500G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3146G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.194G>A
  hgvsp: ENSP00000468478.1:p.Arg65Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.363G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.464G>A
  hgvsp: ENSP00000329933.4:p.Arg155Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.464G>A
  hgvsp: ENSP00000268756.3:p.Arg155Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.464G>A
  hgvsp: ENSP00000368157.3:p.Arg155Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2352G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg155Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

17-27251185-GGGCAAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251185
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251179
    reference: chr 17
allele count: 7
allele frequency: 5.768058142026072e-5
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.350_355delATTGCC
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.523_528delATTGCC
  hgvsp: ENSP00000465017.1:p.Ile175_Ala176del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.451_456delATTGCC
  hgvsp: ENSP00000368157.3:p.Ile151_Ala152del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.487_492delATTGCC
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.451_456delATTGCC
  hgvsp: ENSP00000465161.1:p.Ile151_Ala152del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.451_456delATTGCC
  hgvsp: ENSP00000268756.3:p.Ile151_Ala152del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.451_456delATTGCC
  hgvsp: ENSP00000329933.4:p.Ile151_Ala152del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.181_186delATTGCC
  hgvsp: ENSP00000467091.1:p.Ile61_Ala62del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.181_186delATTGCC
  hgvsp: ENSP00000468478.1:p.Ile61_Ala62del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3133_3138delATTGCC
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile151_Ala152del
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: GGGCAAT
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

17-27251195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251195
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251195
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.177G>A
  hgvsp: ENST00000578900.2:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3129G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.177G>A
  hgvsp: ENST00000582853.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.447G>A
  hgvsp: ENST00000268756.3:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.447G>A
  hgvsp: ENST00000378879.3:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.483G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.519G>A
  hgvsp: ENST00000584685.1:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.447G>A
  hgvsp: ENST00000332830.4:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.346G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.447G>A
  hgvsp: ENST00000577226.1:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2369G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys149Lys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-27251200-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251200
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251200
    reference: chr 17
allele count: 4
allele frequency: 3.295272930980509e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.442C>T
  hgvsp: ENST00000378879.3:c.442C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.172C>T
  hgvsp: ENST00000578900.2:c.172C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.442C>T
  hgvsp: ENST00000332830.4:c.442C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.442C>T
  hgvsp: ENST00000577226.1:c.442C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.442C>T
  hgvsp: ENST00000268756.3:c.442C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.172C>T
  hgvsp: ENST00000582853.1:c.172C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.341C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.514C>T
  hgvsp: ENST00000584685.1:c.514C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2374C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3124C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.478C>T
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Leu148Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-27251216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251216
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251216
    reference: chr 17
allele count: 6
allele frequency: 4.942502224126001e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.426G>A
  hgvsp: ENST00000268756.3:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.426G>A
  hgvsp: ENST00000332830.4:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.156G>A
  hgvsp: ENST00000582853.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.426G>A
  hgvsp: ENST00000378879.3:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.325G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3108G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.156G>A
  hgvsp: ENST00000578900.2:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.498G>A
  hgvsp: ENST00000584685.1:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2390G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.462G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.426G>A
  hgvsp: ENST00000577226.1:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser142Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-27251222-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251222
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251222
    reference: chr 17
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.319C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.420C>G
  hgvsp: ENSP00000329933.4:p.Asp140Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.150C>G
  hgvsp: ENSP00000468478.1:p.Asp50Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.420C>G
  hgvsp: ENSP00000268756.3:p.Asp140Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2396C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.420C>G
  hgvsp: ENSP00000368157.3:p.Asp140Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3102C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.420C>G
  hgvsp: ENSP00000465161.1:p.Asp140Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.456C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.492C>G
  hgvsp: ENSP00000465017.1:p.Asp164Glu
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.150C>G
  hgvsp: ENSP00000467091.1:p.Asp50Glu
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp140Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-27251224-CCAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251224
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251221
    reference: chr 17
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.145_147delTTG
  hgvsp: ENSP00000468478.1:p.Leu49del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.415_417delTTG
  hgvsp: ENSP00000329933.4:p.Leu139del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.487_489delTTG
  hgvsp: ENSP00000465017.1:p.Leu163del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3097_3099delTTG
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.415_417delTTG
  hgvsp: ENSP00000465161.1:p.Leu139del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.314_316delTTG
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.145_147delTTG
  hgvsp: ENSP00000467091.1:p.Leu49del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.415_417delTTG
  hgvsp: ENSP00000268756.3:p.Leu139del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.415_417delTTG
  hgvsp: ENSP00000368157.3:p.Leu139del
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.451_453delTTG
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2401_322-2399delTTG
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22968
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu139del
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: CCAA
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

17-27251259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251259
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251259
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.419G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3065G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2433G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.383G>A
  hgvsp: ENSP00000268756.3:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.383G>A
  hgvsp: ENSP00000368157.3:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.113G>A
  hgvsp: ENSP00000467091.1:p.Arg38Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.282G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.383G>A
  hgvsp: ENSP00000329933.4:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.113G>A
  hgvsp: ENSP00000468478.1:p.Arg38Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.455G>A
  hgvsp: ENSP00000465017.1:p.Arg152Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.383G>A
  hgvsp: ENSP00000465161.1:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg128Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-27251268-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251268
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251268
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.374C>G
  hgvsp: ENSP00000329933.4:p.Ser125Cys
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.446C>G
  hgvsp: ENSP00000465017.1:p.Ser149Cys
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3056C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.374C>G
  hgvsp: ENSP00000368157.3:p.Ser125Cys
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.374C>G
  hgvsp: ENSP00000465161.1:p.Ser125Cys
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.410C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.374C>G
  hgvsp: ENSP00000268756.3:p.Ser125Cys
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.104C>G
  hgvsp: ENSP00000468478.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.273C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2442C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.104C>G
  hgvsp: ENSP00000467091.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser125Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-27251271-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251271
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251271
    reference: chr 17
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.371A>G
  hgvsp: ENSP00000329933.4:p.Lys124Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2445A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.371A>G
  hgvsp: ENSP00000465161.1:p.Lys124Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3053A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.443A>G
  hgvsp: ENSP00000465017.1:p.Lys148Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.407A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.270A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.101A>G
  hgvsp: ENSP00000468478.1:p.Lys34Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.371A>G
  hgvsp: ENSP00000268756.3:p.Lys124Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.371A>G
  hgvsp: ENSP00000368157.3:p.Lys124Arg
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.101A>G
  hgvsp: ENSP00000467091.1:p.Lys34Arg
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys124Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

17-27251278-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251278
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251278
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.436G>A
  hgvsp: ENSP00000465017.1:p.Val146Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.94G>A
  hgvsp: ENSP00000468478.1:p.Val32Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.400G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.364G>A
  hgvsp: ENSP00000465161.1:p.Val122Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2452G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.94G>A
  hgvsp: ENSP00000467091.1:p.Val32Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3046G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.364G>A
  hgvsp: ENSP00000368157.3:p.Val122Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.364G>A
  hgvsp: ENSP00000268756.3:p.Val122Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.364G>A
  hgvsp: ENSP00000329933.4:p.Val122Met
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.263G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val122Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

17-27251286-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251286
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251286
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.86A>G
  hgvsp: ENSP00000468478.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.356A>G
  hgvsp: ENSP00000368157.3:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.356A>G
  hgvsp: ENSP00000329933.4:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.86A>G
  hgvsp: ENSP00000466695.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2460A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.86A>G
  hgvsp: ENSP00000467091.1:p.Asn29Ser
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.356A>G
  hgvsp: ENSP00000465161.1:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.356A>G
  hgvsp: ENSP00000268756.3:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.428A>G
  hgvsp: ENSP00000465017.1:p.Asn143Ser
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.255A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.392A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3038A>G
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn119Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-27251316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251316
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251316
    reference: chr 17
allele count: 4
allele frequency: 3.296576505299247e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.398G>A
  hgvsp: ENSP00000465017.1:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.3008G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.326G>A
  hgvsp: ENSP00000268756.3:p.Arg109Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.56G>A
  hgvsp: ENSP00000468478.1:p.Arg19Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.56G>A
  hgvsp: ENSP00000466695.1:p.Arg19Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2490G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.225G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.326G>A
  hgvsp: ENSP00000329933.4:p.Arg109Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.326G>A
  hgvsp: ENSP00000368157.3:p.Arg109Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.56G>A
  hgvsp: ENSP00000467091.1:p.Arg19Gln
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.362G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.326G>A
  hgvsp: ENSP00000465161.1:p.Arg109Gln
  variant of: http://identifiers.org/hgnc/20816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Arg109Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-27251336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251336
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251336
    reference: chr 17
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-16C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2510C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-16C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-16C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2988C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-16C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-16C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-16C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-16C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-16C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-16C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-16C>T
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-27251389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251389
    reference: chr 17
allele count: 2
allele frequency: 1.718390212049352e-5
allele num: 116388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-69G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-69G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-69G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-69G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-69G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-69G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2563G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-69G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-69G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2935G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-69G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-69G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

17-27251390-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251390
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251390
    reference: chr 17
allele count: 1
allele frequency: 8.593870851308846e-6
allele num: 116362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-70G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-70G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2564G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-70G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2934G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-70G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-70G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-70G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-70G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-70G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-70G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-70G>C
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29114
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

17-27251391-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251391
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251391
    reference: chr 17
allele count: 1
allele frequency: 8.619055006809053e-6
allele num: 116022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-71A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-71A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-71A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-71A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2565A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-71A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-71A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2933A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-71A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-71A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-71A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-71A>C
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

17-27251394-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251394
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251394
    reference: chr 17
allele count: 3
allele frequency: 2.61305832346178e-5
allele num: 114808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-74A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-74A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-74A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-74A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2930A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-74A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-74A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-74A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-74A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2568A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-74A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-74A>C
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

17-27251406-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251406
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251406
    reference: chr 17
allele count: 1
allele frequency: 9.210986865132731e-6
allele num: 108566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-86G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2918G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-86G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-86G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-86G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-86G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-86G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-86G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2580G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-86G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-86G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-86G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ

17-27251407-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251407
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251407
    reference: chr 17
allele count: 1
allele frequency: 9.343174810800711e-6
allele num: 107030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-87T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2917T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-87T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2581T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-87T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-87T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-87T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-87T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-87T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-87T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-87T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-87T>C
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20618
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

17-27251412-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251412
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251412
    reference: chr 17
allele count: 4
allele frequency: 3.810467353820946e-5
allele num: 104974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-92A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-92A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-92A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-92A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-92A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-92A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-92A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.322-2586A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2912A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-92A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-92A>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-92A>C
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-27251422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251422
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251422
    reference: chr 17
allele count: 2
allele frequency: 2.02240828378433e-5
allele num: 98892
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-102G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-102G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+2587G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-102G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-102G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-102G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2902G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-102G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-102G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-102G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-102G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-102G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10281
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

17-27251431-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251431
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251431
    reference: chr 17
allele count: 2
allele frequency: 2.135064158677968e-5
allele num: 93674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-111A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-111A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-111A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-111A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2893A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-111A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-111A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-111A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-111A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-111A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+2578A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-111A>G
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9986
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

17-27251434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251434
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251434
    reference: chr 17
allele count: 2
allele frequency: 2.172873842944679e-5
allele num: 92044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-114G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-114G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-114G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-114G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-114G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-114G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-114G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-114G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+2575G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-114G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-114G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2890G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-27251436-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251436
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251436
    reference: chr 17
allele count: 2
allele frequency: 2.204828574578327e-5
allele num: 90710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-116C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+2573C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-116C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-116C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-116C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2888C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-116C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-116C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-116C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-116C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-116C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-116C>T
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

17-27251438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251438
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251438
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 88282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-118G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-118G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-118G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-118G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+2571G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-118G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-118G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-118G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-118G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2886G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-118G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-118G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 23248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12478
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-27251442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251442
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251442
    reference: chr 17
allele count: 1
allele frequency: 1.176055509820064e-5
allele num: 85030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-122A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-122A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-122A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-122A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-122A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-122A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-122A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-122A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+2567A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2882A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-122A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-122A>G
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21974
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

17-27251447-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251447
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251447
    reference: chr 17
allele count: 2
allele frequency: 2.459480065914066e-5
allele num: 81318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-127G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-127G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2877G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-127G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-127G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+2562G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-127G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-127G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-127G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-127G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-127G>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-127G>C
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15319
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11995
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

17-27251449-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27251449
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27251449
    reference: chr 17
allele count: 1
allele frequency: 1.258653241032096e-5
allele num: 79450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.322-129C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582655
  gene symbol: PHF12
  hgvsc: ENST00000582655.1:n.221-129C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.322-129C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.52-129C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.322-129C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.52-129C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.52-129C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.358-129C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.2875C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.394-129C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.322-129C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+2560C>G
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

17-27253776-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27253776
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27253776
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 11892
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000580782
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000580782.1:n.454+30A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.321+233T>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.393+233T>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.548T>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000582631
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000582631.1:n.188+30A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.51+233T>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.321+233T>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.51+233T>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+233T>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.321+233T>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.51+233T>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.321+233T>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.357+24T>A
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-27253801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27253801
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27253801
    reference: chr 17
allele count: 1
allele frequency: 7.738740133106331e-5
allele num: 12922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+208A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.393+208A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.321+208A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.51+208A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.51+208A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.321+208A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.321+208A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000580782
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000580782.1:n.454+55T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.51+208A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.321+208A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000582631
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000582631.1:n.188+55T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.523A>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.356A>G
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.356A>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-27253815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27253815
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27253815
    reference: chr 17
allele count: 1
allele frequency: 7.399733609590054e-5
allele num: 13514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.321+194G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000580782
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000580782.1:n.454+69C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.321+194G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.342G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.321+194G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.51+194G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.509G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000582631
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000582631.1:n.188+69C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.51+194G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.51+194G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.321+194G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.393+194G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+194G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

17-27253826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27253826
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27253826
    reference: chr 17
allele count: 2
allele frequency: 1.428163381890888e-4
allele num: 14004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.51+183C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.393+183C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.498C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.321+183C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.321+183C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.321+183C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.321+183C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.331C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+183C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000582631
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000582631.1:n.188+80G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000580782
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000580782.1:n.454+80G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.51+183C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.51+183C>T
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

17-27253846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27253846
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27253846
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 15112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.321+163G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.393+163G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.321+163G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.51+163G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.478G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.311G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.321+163G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000580782
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000580782.1:n.454+100C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.51+163G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000582631
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000582631.1:n.188+100C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+163G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.51+163G>A
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.321+163G>A
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9792
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35233
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-27253875-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27253875
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27253875
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 19840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.449C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.51+134C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.282C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000580782
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000580782.1:n.454+129G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000582631
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000582631.1:n.188+129G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+134C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.51+134C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.321+134C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.321+134C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.321+134C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.393+134C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.51+134C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.321+134C>T
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26054
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

17-27253876-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27253876
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27253876
    reference: chr 17
allele count: 1
allele frequency: 5.034739703957305e-5
allele num: 19862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.51+133A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.321+133A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.321+133A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.281A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.448A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.321+133A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000580782
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000580782.1:n.454+130T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000582631
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000582631.1:n.188+130T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.51+133A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.393+133A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+133A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.51+133A>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.321+133A>T
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26545
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

17-27253877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27253877
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27253877
    reference: chr 17
allele count: 1
allele frequency: 4.697482149567831e-5
allele num: 21288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.447C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.51+132C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.321+132C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.51+132C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.321+132C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.321+132C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.51+132C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.280C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000580782
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000580782.1:n.454+131G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+132C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.393+132C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.321+132C>T
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000582631
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000582631.1:n.188+131G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

17-27253882-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27253882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27253882
    reference: chr 17
allele count: 1
allele frequency: 4.209817293929443e-5
allele num: 23754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000582631
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000582631.1:n.188+136G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.321+127C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.321+127C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.51+127C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+127C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.275C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.51+127C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.51+127C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000580782
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000580782.1:n.454+136G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.321+127C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.321+127C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.442C>G
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.393+127C>G
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

17-27253883-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27253883
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27253883
    reference: chr 17
allele count: 1
allele frequency: 4.125072188763303e-5
allele num: 24242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000483934
  gene symbol: PHF12
  hgvsc: ENST00000483934.1:n.274T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000329933
  ensembl transcript: ENST00000332830
  gene symbol: PHF12
  hgvsc: ENST00000332830.4:c.321+126T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465017
  ensembl transcript: ENST00000584685
  gene symbol: PHF12
  hgvsc: ENST00000584685.1:c.393+126T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109118
  ensembl transcript: ENST00000582436
  gene symbol: PHF12
  hgvsc: ENST00000582436.1:n.441T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000582631
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000582631.1:n.188+137A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000466695
  ensembl transcript: ENST00000584236
  gene symbol: PHF12
  hgvsc: ENST00000584236.1:c.51+126T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000468478
  ensembl transcript: ENST00000578900
  gene symbol: PHF12
  hgvsc: ENST00000578900.2:c.51+126T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000368157
  ensembl transcript: ENST00000378879
  gene symbol: PHF12
  hgvsc: ENST00000378879.3:c.321+126T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000268756
  ensembl transcript: ENST00000268756
  gene symbol: PHF12
  hgvsc: ENST00000268756.3:c.321+126T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000467091
  ensembl transcript: ENST00000582853
  gene symbol: PHF12
  hgvsc: ENST00000582853.1:c.51+126T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265845
  ensembl transcript: ENST00000580782
  gene symbol: RP11-20B24.5
  hgvsc: ENST00000580782.1:n.454+137A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000465161
  ensembl transcript: ENST00000577226
  gene symbol: PHF12
  hgvsc: ENST00000577226.1:c.321+126T>C
  variant of: http://identifiers.org/hgnc/20816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109118
  ensembl protein: ENSP00000463900
  ensembl transcript: ENST00000583524
  gene symbol: PHF12
  hgvsc: ENST00000583524.1:c.321+126T>C
  variant of: http://identifiers.org/hgnc/20816
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1045
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3584
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64232
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.433350488934638e-5
allele num: 15544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

QD
type: SiteQuality
SIO_000300: 8.5e0

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 2.607e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.383594e6

GenotypeQuality
all individuals: 724
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4353
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 690
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 290
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45619
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537089981247502e-5
allele num: 65058
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.184e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.254e0

DP
type: SiteQuality
SIO_000300: 1.413025e6

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

FS
type: SiteQuality
SIO_000300: 4.92e0

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.404e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 263
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 120
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46513
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4386
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.077705156136529e-5
allele num: 11016
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.140620202640467e-5
allele num: 65140
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.024e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.45e-1

DP
type: SiteQuality
SIO_000300: 1.416593e6

GenotypeQuality
all individuals: 1066
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50263
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 860
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4606
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511532996765319e-5
allele num: 66158
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.73e-1

FS
type: SiteQuality
SIO_000300: 2.694e0

DP
type: SiteQuality
SIO_000300: 1.456011e6

VQSLOD
type: SiteQuality
SIO_000300: -2.113e-1

QD
type: SiteQuality
SIO_000300: 2.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.544e0

MQ
type: SiteQuality
SIO_000300: 5.416e1

GenotypeQuality
all individuals: 305
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 250
bin: 2.75e1
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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bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 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: 1
allele frequency: 1.508022680661117e-5
allele num: 66312
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.77e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.467309e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.75e1
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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bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.753501400560224e-5
allele num: 11424
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.77e-1

VQSLOD
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BaseQRankSum
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SIO_000300: 5.74e-1

ReadPosRankSum
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SIO_000300: 1.36e0

MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.467309e6

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 7.75e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66428
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South Asian
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allele count: 3
allele frequency: 1.829714564527934e-4
allele num: 16396
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
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VQSLOD
type: SiteQuality
SIO_000300: -1.433e0

DP
type: SiteQuality
SIO_000300: 1.474428e6

MQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.408e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

QD
type: SiteQuality
SIO_000300: 5.94e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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FS
type: SiteQuality
SIO_000300: 1.014e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.479174e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 3.034e1

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

South Asian
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allele frequency: 6.079766536964981e-5
allele num: 16448
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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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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FS
type: SiteQuality
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8636
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African
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allele frequency: 9.632055480639569e-5
allele num: 10382
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South Asian
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allele frequency: 0.0e0
allele num: 16450
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
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allele count: 0
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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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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South Asian
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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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Other
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European (Non-Finnish)
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 2.284e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.485327e6

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

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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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

DP
type: SiteQuality
SIO_000300: 1.485327e6

FS
type: SiteQuality
SIO_000300: 2.284e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.191e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.0016509079994e-5
allele num: 66630
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.716e0

DP
type: SiteQuality
SIO_000300: 1.486884e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

FS
type: SiteQuality
SIO_000300: 5.19e-1

DP
type: SiteQuality
SIO_000300: 1.487449e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

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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variant carriers: 18

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.401392807828541e-4
allele num: 66628
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.924557351809084e-4
allele num: 10392
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.27e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

DP
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SIO_000300: 1.487449e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 5.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.653e0

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
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SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.131e1

DP
type: SiteQuality
SIO_000300: 1.487454e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66646
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
allele num: 11526
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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FS
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

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: 3.25e1
variant carriers: 0

African
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allele count: 0
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num of homozygotes: 0

East Asian
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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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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.500855162480871e-5
allele num: 66654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.487258e6

ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 9.25e1
variant carriers: 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 frequency: 0.0e0
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African
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allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

Latino
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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

Other
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South Asian
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ReadPosRankSum
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SIO_000300: -2.81e-1

MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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SIO_000300: 1.449e0

QD
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DP
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ClippingRankSum
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SIO_000300: 1.15e-1

VQSLOD
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SIO_000300: 1.14e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

South Asian
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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BaseQRankSum
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SIO_000300: 1.11e0

DP
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SIO_000300: 1.48854e6

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.500990217847926e-5
allele num: 66652
num of homozygotes: 0

East Asian
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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 count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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BaseQRankSum
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SIO_000300: -1.068e0

ReadPosRankSum
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SIO_000300: 7.87e-1

MQRankSum
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VQSLOD
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MQ
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 5.0e-3

DP
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SIO_000300: 1.494401e6

GenotypeDepth
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variant carriers: 18

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 99

South Asian
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allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

African
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allele count: 80
allele frequency: 7.689350249903883e-3
allele num: 10404
num of homozygotes: 0

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

Latino
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allele frequency: 5.197505197505198e-4
allele num: 11544
num of homozygotes: 0

East Asian
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Other
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allele frequency: 1.106194690265487e-3
allele num: 904
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European (Non-Finnish)
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allele count: 11
allele frequency: 1.650561190804874e-4
allele num: 66644
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InbreedingCoeff
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SIO_000300: 3.0e-4

VQSLOD
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BaseQRankSum
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QD
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MQ
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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SIO_000300: 4.52e-1

FS
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
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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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

East Asian
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Other
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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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

South Asian
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num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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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

South Asian
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num of homozygotes: 0

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -1.194e0

ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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SIO_000300: 1.499366e6

InbreedingCoeff
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SIO_000300: 9.5e-3

QD
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SIO_000300: 1.163e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (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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South Asian
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allele frequency: 0.0e0
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East Asian
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Latino
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele num: 66686
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DP
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.958e1

FS
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
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Latino
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.49907057624273e-5
allele num: 66708
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: 8.9e-2

DP
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SIO_000300: 1.503533e6

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16508
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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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: 1.049097775912715e-4
allele num: 66724
num of homozygotes: 0

Latino
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MQ
type: SiteQuality
SIO_000300: 5.161e1

DP
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SIO_000300: 1.504472e6

FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -1.141e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

East Asian
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ReadPosRankSum
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SIO_000300: -6.7e-1

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

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

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

African
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East Asian
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num of homozygotes: 0

Other
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Latino
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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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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MQRankSum
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ReadPosRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 2

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

European (Non-Finnish)
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num of homozygotes: 0

East Asian
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allele num: 8654
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European (Finnish)
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African
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Other
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Latino
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South Asian
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QD
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FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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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 (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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African
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South Asian
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European (Non-Finnish)
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Other
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QD
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VQSLOD
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MQ
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FS
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ClippingRankSum
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SIO_000300: -6.42e-1

DP
type: SiteQuality
SIO_000300: 1.506165e6

MQRankSum
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SIO_000300: -1.78e-1

BaseQRankSum
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SIO_000300: -5.16e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: 1.6e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
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allele frequency: 0.0e0
allele num: 11574
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
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -1.172e0

VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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QD
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DP
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SIO_000300: 1.506101e6

GenotypeDepth
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variant carriers: 0

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

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

European (Finnish)
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Other
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Latino
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African
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East Asian
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South Asian
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MQ
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SIO_000300: 5.978e1

FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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ClippingRankSum
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QD
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DP
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SIO_000300: 1.506107e6

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

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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Latino
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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BaseQRankSum
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SIO_000300: -2.904e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

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

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

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

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

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

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

European (Finnish)
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African
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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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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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Latino
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Other
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European (Finnish)
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East Asian
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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DP
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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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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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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FS
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ClippingRankSum
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MQRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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FS
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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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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: 63808
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Latino
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South Asian
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Other
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African
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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DP
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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

East Asian
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European (Non-Finnish)
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allele num: 63158
num of homozygotes: 0

African
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European (Finnish)
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Other
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South Asian
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Latino
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 258
bin: 4.75e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 7.001820473323065e-5
allele num: 14282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5976
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.380662609871535e-4
allele num: 8874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7330
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -2.9e-3

QD
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VQSLOD
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SIO_000300: 1.24e0

MQ
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SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

DP
type: SiteQuality
SIO_000300: 1.157948e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2865
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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: 6942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.490090895544628e-4
allele num: 13422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54598
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.028e1

VQSLOD
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SIO_000300: -2.495e-1

BaseQRankSum
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SIO_000300: -1.858e0

InbreedingCoeff
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SIO_000300: -5.1e-3

DP
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SIO_000300: 9.70216e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

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: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.595405232929164e-4
allele num: 12536
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7930
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5488
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51836
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 8.67006e5

InbreedingCoeff
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SIO_000300: -7.3e-3

MQ
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SIO_000300: 6.0e1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.24e0

ClippingRankSum
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SIO_000300: 1.5e-1

MQRankSum
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SIO_000300: -1.62e-1

BaseQRankSum
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SIO_000300: 3.91e0

QD
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VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.962785585302662e-5
allele num: 50948
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.283367556468173e-4
allele num: 7792
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 7.31e0

VQSLOD
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SIO_000300: -8.895999999999999e-1

InbreedingCoeff
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SIO_000300: -8.399999999999999e-3

MQRankSum
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SIO_000300: 1.34e0

BaseQRankSum
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SIO_000300: -3.539e0

DP
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SIO_000300: 8.50199e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.68e-1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.985651654045436e-5
allele num: 50180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

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

East Asian
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
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num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
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QD
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FS
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ClippingRankSum
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VQSLOD
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MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 3.56e-1

BaseQRankSum
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SIO_000300: -9.58e-1

DP
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SIO_000300: 8.34811e5

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: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11696
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
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
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num of homozygotes: 0

East Asian
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DP
type: SiteQuality
SIO_000300: 8.19779e5

ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.02e-2

MQRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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Other
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European (Non-Finnish)
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allele num: 47062
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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QD
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4988
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.436950927322744e-5
allele num: 45076
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele 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

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

South Asian
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allele frequency: 0.0e0
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FS
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SIO_000300: 7.142e0

BaseQRankSum
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SIO_000300: -1.115e0

ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 4.06e-1

DP
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GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.26736803918012e-5
allele num: 44104
num of homozygotes: 0

South Asian
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allele num: 10422
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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Other
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DP
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 266
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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South Asian
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MQRankSum
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SIO_000300: -4.21e-1

VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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FS
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MQ
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QD
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ReadPosRankSum
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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: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.382086707956169e-4
allele num: 4198
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: 1.16e-1

InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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SIO_000300: 6.0e1

FS
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12
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

Latino
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num of homozygotes: 0

South Asian
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allele frequency: 1.317870321560359e-4
allele num: 7588
num of homozygotes: 0

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

African
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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 num: 4726
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.42e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.49137e5

GenotypeDepth
all individuals: 2421
bin: 1.25e1
variant carriers: 1

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.205109664979513e-4
allele num: 8298
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.71e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 6.82e0

DP
type: SiteQuality
SIO_000300: 4.59031e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.052e-1

GenotypeDepth
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bin: 7.5e0
variant carriers: 1

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 6900
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.050420168067227e-3
allele num: 952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -4.16e-2

QD
type: SiteQuality
SIO_000300: 1.366e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 4.66293e5

FS
type: SiteQuality
SIO_000300: 2.935e0

VQSLOD
type: SiteQuality
SIO_000300: -3.843e-1

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

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

GenotypeDepth
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17483
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7141
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
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variant carriers: 0

GenotypeQuality
all individuals: 443
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variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 8.130081300813008e-4
allele num: 1230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2200
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

QD
type: SiteQuality
SIO_000300: 1.703e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 4.95474e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.58e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -9.562e-1

GenotypeDepth
all individuals: 325
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 0

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