3-48573938-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48573938
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48573938
    reference: chr 3
allele count: 1
allele frequency: 8.648424257100357e-6
allele num: 115628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.633-42T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.600-42T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*527-42T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*137-42T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*664-42T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.600-42T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.531-42T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.633-42T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.633-42T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.558-42T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.907-42T>C
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-48573941-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48573941
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48573941
    reference: chr 3
allele count: 1
allele frequency: 8.678898127093784e-6
allele num: 115222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*137-45C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*664-45C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.633-45C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.633-45C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.600-45C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.531-45C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.633-45C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.558-45C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*527-45C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.600-45C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.907-45C>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD

3-48573948-C-CTTTTGGTCACTGATGAACTGGGCTAGACTCTTGGCAAACTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48573948
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48573989
    reference: chr 3
allele count: 1
allele frequency: 8.747375787263821e-6
allele num: 114320
alternate allele: CTTTTGGTCACTGATGAACTGGGCTAGACTCTTGGCAAACTG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11463
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-48575884-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575884
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575884
    reference: chr 3
allele count: 1
allele frequency: 8.322237017310253e-6
allele num: 120160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*526+47A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.481+47A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*663+47A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.599+47A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.632+47A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.632+47A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.632+47A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.599+47A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.530+47A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.906+47A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*136+47A>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

3-48575887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575887
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575887
    reference: chr 3
allele count: 3
allele frequency: 2.498001598721023e-5
allele num: 120096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.481+44G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.632+44G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.530+44G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.632+44G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*663+44G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*136+44G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.906+44G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.599+44G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.599+44G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.632+44G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*526+44G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

3-48575888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575888
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575888
    reference: chr 3
allele count: 1
allele frequency: 8.324592511196577e-6
allele num: 120126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.632+43C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.530+43C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*136+43C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.599+43C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*663+43C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.906+43C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*526+43C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.632+43C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.599+43C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.481+43C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.632+43C>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23057
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

3-48575892-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575892
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575892
    reference: chr 3
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.599+39T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.906+39T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.599+39T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.530+39T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.632+39T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*663+39T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.632+39T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.632+39T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.481+39T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*526+39T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*136+39T>C
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14799
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23789
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-48575913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575913
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575913
    reference: chr 3
allele count: 1
allele frequency: 8.297928836962294e-6
allele num: 120512
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.632+18C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*526+18C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.530+18C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.906+18C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.632+18C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*136+18C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.481+18C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*663+18C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.599+18C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.599+18C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.632+18C>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5922
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum

3-48575914-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575914
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575915
    reference: chr 3
allele count: 23
allele frequency: 1.908491959440397e-4
allele num: 120514
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.599+16dupG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*526+16dupG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.481+16dupG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.632+16dupG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.599+16dupG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.632+16dupG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.906+16dupG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.632+16dupG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.530+16dupG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*663+16dupG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*136+16dupG
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21941
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14987
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5242
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

3-48575915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575915
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575915
    reference: chr 3
allele count: 13
allele frequency: 1.079214331966328e-4
allele num: 120458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.906+16G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.632+16G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.530+16G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*136+16G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.481+16G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*663+16G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.632+16G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.599+16G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.599+16G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.632+16G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*526+16G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15012
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21986
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/3-48575917-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575917
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575917
    reference: chr 3
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*526+14G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.599+14G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.481+14G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.632+14G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.906+14G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.530+14G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.632+14G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*663+14G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*136+14G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.632+14G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.599+14G>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8656
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

3-48575921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575921
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575921
    reference: chr 3
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.481+10G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.906+10G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.599+10G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*136+10G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.632+10G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.632+10G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*663+10G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*526+10G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.530+10G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.632+10G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.599+10G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25526
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

3-48575922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575922
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575922
    reference: chr 3
allele count: 8
allele frequency: 6.62943136052505e-5
allele num: 120674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*663+9G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.632+9G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*136+9G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.599+9G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.906+9G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.599+9G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.632+9G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.632+9G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.481+9G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*526+9G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.530+9G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15048
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

3-48575925-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575925
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575925
    reference: chr 3
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.530+6T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*663+6T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.632+6T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*526+6T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.906+6T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.481+6T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*136+6T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.599+6T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.632+6T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.599+6T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.632+6T>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.632+6T>A
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

3-48575930-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575930
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575930
    reference: chr 3
allele count: 1
allele frequency: 8.278145695364238e-6
allele num: 120800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*526+1G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.530+1G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.599+1G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.632+1G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.632+1G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.481+1G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*663+1G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.599+1G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.906+1G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.632+1G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*136+1G>C
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10984
  bin: 6.75e1
  variant carriers: 0
hgvs: c.632+1G>C
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

3-48575934-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575934
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575934
    reference: chr 3
allele count: 1
allele frequency: 8.275131574592036e-6
allele num: 120844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*660A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.478A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.629A>G
  hgvsp: ENSP00000232375.3:p.Asp210Gly
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.629A>G
  hgvsp: ENSP00000388394.1:p.Asp210Gly
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.527A>G
  hgvsp: ENSP00000437446.1:p.Asp176Gly
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.596A>G
  hgvsp: ENSP00000407657.1:p.Asp199Gly
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.903A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.629A>G
  hgvsp: ENSP00000373240.2:p.Asp210Gly
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.527A>G
  hgvsp: ENST00000412035.1:c.527A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*523A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.596A>G
  hgvsp: ENSP00000438908.1:p.Asp199Gly
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*133A>G
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp210Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-48575935-C-CCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575935
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575937
    reference: chr 3
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: CCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.900_901dupTG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.626_627dupTG
  hgvsp: ENSP00000232375.3:p.Asp210TrpfsTer19
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.626_627dupTG
  hgvsp: ENSP00000373240.2:p.Asp210TrpfsTer19
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.524_525dupTG
  hgvsp: ENSP00000437446.1:p.Asp176TrpfsTer19
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.593_594dupTG
  hgvsp: ENSP00000407657.1:p.Asp199TrpfsTer19
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.626_627dupTG
  hgvsp: ENSP00000388394.1:p.Asp210TrpfsTer19
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*657_*658dupTG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: inframe_insertion
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.524_525dupTG
  hgvsp: ENSP00000393047.1:p.175_176insTer
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*130_*131dupTG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.475_476dupTG
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.593_594dupTG
  hgvsp: ENSP00000438908.1:p.Asp199TrpfsTer19
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*520_*521dupTG
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp210TrpfsTer19
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-48575938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575938
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575938
    reference: chr 3
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.523C>T
  hgvsp: ENST00000541519.1:c.523C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.474C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.899C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.625C>T
  hgvsp: ENST00000232375.3:c.625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.625C>T
  hgvsp: ENST00000383734.2:c.625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.625C>T
  hgvsp: ENST00000416568.1:c.625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*129C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.592C>T
  hgvsp: ENST00000452531.1:c.592C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*656C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.592C>T
  hgvsp: ENST00000536104.1:c.592C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*519C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.523C>T
  hgvsp: ENST00000412035.1:c.523C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu209Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-48575951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575951
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575951
    reference: chr 3
allele count: 7
allele frequency: 5.784263497992034e-5
allele num: 121018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.886G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.461G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*506G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.579G>A
  hgvsp: ENST00000536104.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.510G>A
  hgvsp: ENST00000541519.1:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.579G>A
  hgvsp: ENST00000452531.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*116G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.612G>A
  hgvsp: ENST00000383734.2:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.612G>A
  hgvsp: ENST00000232375.3:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.510G>A
  hgvsp: ENST00000412035.1:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*643G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.612G>A
  hgvsp: ENST00000416568.1:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser204Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

3-48575952-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575952
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575952
    reference: chr 3
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.611C>T
  hgvsp: ENSP00000373240.2:p.Ser204Leu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.509C>T
  hgvsp: ENSP00000393047.1:p.Ser170Leu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.509C>T
  hgvsp: ENSP00000437446.1:p.Ser170Leu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.611C>T
  hgvsp: ENSP00000232375.3:p.Ser204Leu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.460C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*115C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*505C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*642C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.578C>T
  hgvsp: ENSP00000407657.1:p.Ser193Leu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.578C>T
  hgvsp: ENSP00000438908.1:p.Ser193Leu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.611C>T
  hgvsp: ENSP00000388394.1:p.Ser204Leu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.885C>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser204Leu
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: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

3-48575956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575956
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575956
    reference: chr 3
allele count: 4
allele frequency: 3.30392837083292e-5
allele num: 121068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.607G>A
  hgvsp: ENSP00000388394.1:p.Glu203Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.574G>A
  hgvsp: ENSP00000438908.1:p.Glu192Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*111G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.505G>A
  hgvsp: ENSP00000437446.1:p.Glu169Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.881G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.607G>A
  hgvsp: ENSP00000232375.3:p.Glu203Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.505G>A
  hgvsp: ENSP00000393047.1:p.Glu169Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.607G>A
  hgvsp: ENSP00000373240.2:p.Glu203Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*501G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.574G>A
  hgvsp: ENSP00000407657.1:p.Glu192Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.456G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*638G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22647
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu203Lys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-48575958-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575958
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575958
    reference: chr 3
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.572A>G
  hgvsp: ENSP00000438908.1:p.Tyr191Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.503A>G
  hgvsp: ENSP00000393047.1:p.Tyr168Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*109A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.605A>G
  hgvsp: ENSP00000388394.1:p.Tyr202Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.605A>G
  hgvsp: ENSP00000373240.2:p.Tyr202Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.503A>G
  hgvsp: ENSP00000437446.1:p.Tyr168Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.572A>G
  hgvsp: ENSP00000407657.1:p.Tyr191Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.605A>G
  hgvsp: ENSP00000232375.3:p.Tyr202Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.879A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*499A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.454A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*636A>G
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr202Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff

3-48575961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575961
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575961
    reference: chr 3
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.602C>T
  hgvsp: ENSP00000373240.2:p.Ser201Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*496C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.500C>T
  hgvsp: ENSP00000393047.1:p.Ser167Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*633C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.602C>T
  hgvsp: ENSP00000388394.1:p.Ser201Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.569C>T
  hgvsp: ENSP00000407657.1:p.Ser190Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*106C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.500C>T
  hgvsp: ENSP00000437446.1:p.Ser167Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.602C>T
  hgvsp: ENSP00000232375.3:p.Ser201Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.569C>T
  hgvsp: ENSP00000438908.1:p.Ser190Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.451C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.876C>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser201Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-48575963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575963
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575963
    reference: chr 3
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*494C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.567C>T
  hgvsp: ENST00000536104.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.498C>T
  hgvsp: ENST00000541519.1:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*631C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.600C>T
  hgvsp: ENST00000416568.1:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.449C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.600C>T
  hgvsp: ENST00000232375.3:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.600C>T
  hgvsp: ENST00000383734.2:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*104C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.498C>T
  hgvsp: ENST00000412035.1:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.567C>T
  hgvsp: ENST00000452531.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.874C>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn200Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

3-48575963-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575963
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575963
    reference: chr 3
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*631C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.449C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.600C>G
  hgvsp: ENSP00000232375.3:p.Asn200Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.498C>G
  hgvsp: ENSP00000393047.1:p.Asn166Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.567C>G
  hgvsp: ENSP00000407657.1:p.Asn189Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.498C>G
  hgvsp: ENSP00000437446.1:p.Asn166Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.600C>G
  hgvsp: ENSP00000373240.2:p.Asn200Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.567C>G
  hgvsp: ENSP00000438908.1:p.Asn189Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*104C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*494C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.600C>G
  hgvsp: ENSP00000388394.1:p.Asn200Lys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.874C>G
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn200Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

3-48575970-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575970
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575970
    reference: chr 3
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.593A>T
  hgvsp: ENSP00000232375.3:p.Tyr198Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.867A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*624A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.560A>T
  hgvsp: ENSP00000438908.1:p.Tyr187Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.593A>T
  hgvsp: ENSP00000373240.2:p.Tyr198Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.593A>T
  hgvsp: ENSP00000388394.1:p.Tyr198Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.560A>T
  hgvsp: ENSP00000407657.1:p.Tyr187Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.491A>T
  hgvsp: ENSP00000393047.1:p.Tyr164Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.491A>T
  hgvsp: ENSP00000437446.1:p.Tyr164Phe
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*97A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.442A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*487A>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr198Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-48575970-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575970
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575970
    reference: chr 3
allele count: 2
allele frequency: 1.650491846570278e-5
allele num: 121176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.491A>G
  hgvsp: ENSP00000437446.1:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.593A>G
  hgvsp: ENSP00000232375.3:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*624A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.560A>G
  hgvsp: ENSP00000407657.1:p.Tyr187Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.867A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.442A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.593A>G
  hgvsp: ENSP00000388394.1:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.593A>G
  hgvsp: ENSP00000373240.2:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.491A>G
  hgvsp: ENSP00000393047.1:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*97A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*487A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.560A>G
  hgvsp: ENSP00000438908.1:p.Tyr187Cys
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr198Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

3-48575971-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575971
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575971
    reference: chr 3
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.592T>C
  hgvsp: ENSP00000232375.3:p.Tyr198His
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.490T>C
  hgvsp: ENSP00000393047.1:p.Tyr164His
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.592T>C
  hgvsp: ENSP00000373240.2:p.Tyr198His
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.559T>C
  hgvsp: ENSP00000438908.1:p.Tyr187His
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*486T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.490T>C
  hgvsp: ENSP00000437446.1:p.Tyr164His
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*96T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.592T>C
  hgvsp: ENSP00000388394.1:p.Tyr198His
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.441T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*623T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.866T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.559T>C
  hgvsp: ENSP00000407657.1:p.Tyr187His
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr198His
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

3-48575973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575973
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575973
    reference: chr 3
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*621G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.488G>A
  hgvsp: ENSP00000437446.1:p.Cys163Tyr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*94G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.557G>A
  hgvsp: ENSP00000407657.1:p.Cys186Tyr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.590G>A
  hgvsp: ENSP00000373240.2:p.Cys197Tyr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.590G>A
  hgvsp: ENSP00000232375.3:p.Cys197Tyr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.488G>A
  hgvsp: ENSP00000393047.1:p.Cys163Tyr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.557G>A
  hgvsp: ENSP00000438908.1:p.Cys186Tyr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.590G>A
  hgvsp: ENSP00000388394.1:p.Cys197Tyr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.864G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*484G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.439G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys197Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-48575982-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575982
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575982
    reference: chr 3
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.479G>T
  hgvsp: ENSP00000437446.1:p.Arg160Leu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*612G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*85G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.548G>T
  hgvsp: ENSP00000438908.1:p.Arg183Leu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.581G>T
  hgvsp: ENSP00000373240.2:p.Arg194Leu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.479G>T
  hgvsp: ENSP00000393047.1:p.Arg160Leu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.855G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.581G>T
  hgvsp: ENSP00000232375.3:p.Arg194Leu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.581G>T
  hgvsp: ENSP00000388394.1:p.Arg194Leu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.430G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*475G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.548G>T
  hgvsp: ENSP00000407657.1:p.Arg183Leu
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg194Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-48575984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575984
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575984
    reference: chr 3
allele count: 4
allele frequency: 3.3000033000033e-5
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.579G>A
  hgvsp: ENST00000232375.3:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*83G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.546G>A
  hgvsp: ENST00000536104.1:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.853G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.477G>A
  hgvsp: ENST00000412035.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.477G>A
  hgvsp: ENST00000541519.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.579G>A
  hgvsp: ENST00000416568.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.579G>A
  hgvsp: ENST00000383734.2:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*473G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.428G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.546G>A
  hgvsp: ENST00000452531.1:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*610G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg193Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

3-48575996-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575996
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575996
    reference: chr 3
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.416G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.841G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.465G>A
  hgvsp: ENST00000541519.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*598G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.534G>A
  hgvsp: ENST00000536104.1:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.567G>A
  hgvsp: ENST00000383734.2:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*71G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.567G>A
  hgvsp: ENST00000232375.3:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*461G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.465G>A
  hgvsp: ENST00000412035.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.567G>A
  hgvsp: ENST00000416568.1:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.534G>A
  hgvsp: ENST00000452531.1:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu189Glu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

3-48575999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48575999
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48575999
    reference: chr 3
allele count: 5
allele frequency: 4.124663839897049e-5
allele num: 121222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*458G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.838G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.564G>A
  hgvsp: ENST00000416568.1:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.531G>A
  hgvsp: ENST00000536104.1:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.462G>A
  hgvsp: ENST00000541519.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.462G>A
  hgvsp: ENST00000412035.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.564G>A
  hgvsp: ENST00000383734.2:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*68G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.531G>A
  hgvsp: ENST00000452531.1:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*595G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.564G>A
  hgvsp: ENST00000232375.3:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.413G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr188Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-48576000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576000
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576000
    reference: chr 3
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*594C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.563C>T
  hgvsp: ENSP00000388394.1:p.Thr188Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*457C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.461C>T
  hgvsp: ENSP00000393047.1:p.Thr154Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.837C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.530C>T
  hgvsp: ENSP00000438908.1:p.Thr177Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.461C>T
  hgvsp: ENSP00000437446.1:p.Thr154Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.530C>T
  hgvsp: ENSP00000407657.1:p.Thr177Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.563C>T
  hgvsp: ENSP00000373240.2:p.Thr188Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.563C>T
  hgvsp: ENSP00000232375.3:p.Thr188Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*67C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.412C>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr188Met
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-48576002-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576002
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576002
    reference: chr 3
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.410T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.459T>A
  hgvsp: ENST00000541519.1:c.459T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.528T>A
  hgvsp: ENST00000452531.1:c.528T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.528T>A
  hgvsp: ENST00000536104.1:c.528T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.459T>A
  hgvsp: ENST00000412035.1:c.459T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.561T>A
  hgvsp: ENST00000232375.3:c.561T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*65T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.561T>A
  hgvsp: ENST00000383734.2:c.561T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*455T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.561T>A
  hgvsp: ENST00000416568.1:c.561T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*592T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.835T>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala187Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

3-48576005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576005
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576005
    reference: chr 3
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*589G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.456G>A
  hgvsp: ENST00000412035.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.456G>A
  hgvsp: ENST00000541519.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.525G>A
  hgvsp: ENST00000536104.1:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.832G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.558G>A
  hgvsp: ENST00000383734.2:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*452G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.558G>A
  hgvsp: ENST00000232375.3:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.407G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.558G>A
  hgvsp: ENST00000416568.1:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.525G>A
  hgvsp: ENST00000452531.1:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*62G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu186Glu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

3-48576008-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576008
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576008
    reference: chr 3
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.453T>A
  hgvsp: ENSP00000393047.1:p.Asp151Glu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.555T>A
  hgvsp: ENSP00000232375.3:p.Asp185Glu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*586T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.555T>A
  hgvsp: ENSP00000373240.2:p.Asp185Glu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.555T>A
  hgvsp: ENSP00000388394.1:p.Asp185Glu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.829T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.522T>A
  hgvsp: ENSP00000438908.1:p.Asp174Glu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*59T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.522T>A
  hgvsp: ENSP00000407657.1:p.Asp174Glu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.404T>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.453T>A
  hgvsp: ENSP00000437446.1:p.Asp151Glu
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*449T>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp185Glu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

3-48576017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576017
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576017
    reference: chr 3
allele count: 10
allele frequency: 8.247694769311977e-5
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.820C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*577C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.546C>T
  hgvsp: ENST00000383734.2:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.513C>T
  hgvsp: ENST00000452531.1:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*50C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.444C>T
  hgvsp: ENST00000412035.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.444C>T
  hgvsp: ENST00000541519.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.546C>T
  hgvsp: ENST00000232375.3:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*440C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.513C>T
  hgvsp: ENST00000536104.1:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.395C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.546C>T
  hgvsp: ENST00000416568.1:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15099
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg182Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD

3-48576021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576021
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576021
    reference: chr 3
allele count: 6
allele frequency: 4.948861761794787e-5
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*573A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.542A>G
  hgvsp: ENSP00000232375.3:p.Asn181Ser
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.509A>G
  hgvsp: ENSP00000438908.1:p.Asn170Ser
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*436A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.440A>G
  hgvsp: ENSP00000437446.1:p.Asn147Ser
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.509A>G
  hgvsp: ENSP00000407657.1:p.Asn170Ser
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.440A>G
  hgvsp: ENSP00000393047.1:p.Asn147Ser
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.391A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.542A>G
  hgvsp: ENSP00000373240.2:p.Asn181Ser
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.816A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*46A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.542A>G
  hgvsp: ENSP00000388394.1:p.Asn181Ser
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn181Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-48576021-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576021
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576021
    reference: chr 3
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.391A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.509A>C
  hgvsp: ENSP00000438908.1:p.Asn170Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.542A>C
  hgvsp: ENSP00000388394.1:p.Asn181Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*46A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.440A>C
  hgvsp: ENSP00000437446.1:p.Asn147Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.542A>C
  hgvsp: ENSP00000232375.3:p.Asn181Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.440A>C
  hgvsp: ENSP00000393047.1:p.Asn147Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.509A>C
  hgvsp: ENSP00000407657.1:p.Asn170Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.542A>C
  hgvsp: ENSP00000373240.2:p.Asn181Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.816A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*436A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*573A>C
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn181Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-48576025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576025
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576025
    reference: chr 3
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.436G>A
  hgvsp: ENSP00000437446.1:p.Val146Ile
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.538G>A
  hgvsp: ENSP00000373240.2:p.Val180Ile
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.538G>A
  hgvsp: ENSP00000232375.3:p.Val180Ile
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*569G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.387G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.505G>A
  hgvsp: ENSP00000407657.1:p.Val169Ile
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.436G>A
  hgvsp: ENSP00000393047.1:p.Val146Ile
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*42G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.505G>A
  hgvsp: ENSP00000438908.1:p.Val169Ile
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*432G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.538G>A
  hgvsp: ENSP00000388394.1:p.Val180Ile
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.812G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val180Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

3-48576026-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576026
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576026
    reference: chr 3
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.811T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.504T>C
  hgvsp: ENST00000536104.1:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.537T>C
  hgvsp: ENST00000416568.1:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.386T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*41T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.435T>C
  hgvsp: ENST00000541519.1:c.435T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.435T>C
  hgvsp: ENST00000412035.1:c.435T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.537T>C
  hgvsp: ENST00000383734.2:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.537T>C
  hgvsp: ENST00000232375.3:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*568T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*431T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.504T>C
  hgvsp: ENST00000452531.1:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr179Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-48576027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576027
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576027
    reference: chr 3
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*40A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.434A>G
  hgvsp: ENSP00000437446.1:p.Tyr145Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.385A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.536A>G
  hgvsp: ENSP00000373240.2:p.Tyr179Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.503A>G
  hgvsp: ENSP00000438908.1:p.Tyr168Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*430A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.434A>G
  hgvsp: ENSP00000393047.1:p.Tyr145Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.536A>G
  hgvsp: ENSP00000232375.3:p.Tyr179Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.503A>G
  hgvsp: ENSP00000407657.1:p.Tyr168Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.536A>G
  hgvsp: ENSP00000388394.1:p.Tyr179Cys
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.810A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*567A>G
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr179Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

3-48576030-T-TGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576030
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576032
    reference: chr 3
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: TGA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*36_*37insTC
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.499_500insTC
  hgvsp: ENSP00000438908.1:p.Asp167ValfsTer16
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.430_431insTC
  hgvsp: ENSP00000437446.1:p.Asp144ValfsTer16
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*563_*564insTC
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.532_533insTC
  hgvsp: ENSP00000388394.1:p.Asp178ValfsTer16
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.499_500insTC
  hgvsp: ENSP00000407657.1:p.Asp167ValfsTer16
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.430_431insTC
  hgvsp: ENSP00000393047.1:p.Asp144ValfsTer16
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.532_533insTC
  hgvsp: ENSP00000232375.3:p.Asp178ValfsTer16
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.532_533insTC
  hgvsp: ENSP00000373240.2:p.Asp178ValfsTer16
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*426_*427insTC
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.806_807insTC
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.381_382insTC
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp178ValfsTer16
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

3-48576039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576039
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576039
    reference: chr 3
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*28G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.524G>A
  hgvsp: ENSP00000232375.3:p.Gly175Asp
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.422G>A
  hgvsp: ENSP00000437446.1:p.Gly141Asp
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.422G>A
  hgvsp: ENSP00000393047.1:p.Gly141Asp
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.491G>A
  hgvsp: ENSP00000407657.1:p.Gly164Asp
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.798G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.524G>A
  hgvsp: ENSP00000373240.2:p.Gly175Asp
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*555G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.491G>A
  hgvsp: ENSP00000438908.1:p.Gly164Asp
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.373G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*418G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.524G>A
  hgvsp: ENSP00000388394.1:p.Gly175Asp
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly175Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

3-48576057-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576057
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576057
    reference: chr 3
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*405-5G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*542-5G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.511-5G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.511-5G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.409-5G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.478-5G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.409-5G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.785-5G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.360-5G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*15-5G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.478-5G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.511-5G>C
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.511-5G>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

3-48576057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576057
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576057
    reference: chr 3
allele count: 5
allele frequency: 4.13517045172602e-5
allele num: 120914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*15-5G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.409-5G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*542-5G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.511-5G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.511-5G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.478-5G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.360-5G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.478-5G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.511-5G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*405-5G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.409-5G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.785-5G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22604
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.511-5G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

3-48576058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576058
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576058
    reference: chr 3
allele count: 2
allele frequency: 1.654396558855158e-5
allele num: 120890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.785-6C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.478-6C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*542-6C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.511-6C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.511-6C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.360-6C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.511-6C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.409-6C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*405-6C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.478-6C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.409-6C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*15-6C>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14695
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.511-6C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

3-48576059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576059
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576059
    reference: chr 3
allele count: 1
allele frequency: 8.270888127967181e-6
allele num: 120906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.409-7C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.409-7C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.511-7C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.360-7C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.511-7C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*15-7C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.511-7C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.478-7C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.785-7C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*542-7C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*405-7C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.478-7C>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14624
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.511-7C>T
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

3-48576069-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576069
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576067
    reference: chr 3
allele count: 3
allele frequency: 2.483567064589301e-5
allele num: 120794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*15-19_*15-18delCT
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.511-19_511-18delCT
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.478-19_478-18delCT
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.785-19_785-18delCT
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.409-19_409-18delCT
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.360-19_360-18delCT
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*405-19_*405-18delCT
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.478-19_478-18delCT
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.511-19_511-18delCT
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*542-19_*542-18delCT
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.511-19_511-18delCT
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.409-19_409-18delCT
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14328
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: CAG
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

3-48576086-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576086
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576086
    reference: chr 3
allele count: 57
allele frequency: 4.726916889191117e-4
allele num: 120586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.409-34T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.409-34T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.511-34T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.785-34T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*542-34T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*15-34T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.478-34T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*405-34T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.478-34T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.511-34T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.511-34T>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.360-34T>C
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19266
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

3-48576096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576096
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576096
    reference: chr 3
allele count: 1
allele frequency: 8.347245409015026e-6
allele num: 119800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.511-44C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*15-44C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.511-44C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.511-44C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*542-44C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.409-44C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.360-44C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*405-44C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.409-44C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.478-44C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.478-44C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.785-44C>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13866
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-48576097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576097
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576097
    reference: chr 3
allele count: 19
allele frequency: 1.587328109074504e-4
allele num: 119698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.478-45G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.785-45G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*15-45G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.360-45G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*542-45G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.409-45G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.511-45G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.478-45G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.409-45G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.511-45G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.511-45G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*405-45G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12692
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13946
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10583
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

3-48576103-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576103
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576103
    reference: chr 3
allele count: 2
allele frequency: 1.671793500066872e-5
allele num: 119632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.360-51C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*405-51C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.785-51C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*542-51C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.409-51C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.478-51C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.409-51C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*15-51C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.511-51C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.511-51C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.478-51C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.511-51C>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

3-48576104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576104
    reference: chr 3
allele count: 1
allele frequency: 8.358268835358821e-6
allele num: 119642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.409-52C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.478-52C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.478-52C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*405-52C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.785-52C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.511-52C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*542-52C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.511-52C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*15-52C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.360-52C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.409-52C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.511-52C>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

3-48576641-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576641
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576641
    reference: chr 3
allele count: 1
allele frequency: 8.700645587902622e-6
allele num: 114934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.408+46A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.510+46A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.510+46A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.510+46A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.477+46A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.359+46A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*14+46A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*541+46A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.408+46A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.784+46A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*404+46A>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.477+46A>C
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-48576652-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576652
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576652
    reference: chr 3
allele count: 8
allele frequency: 6.938782590594481e-5
allele num: 115294
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.510+35G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.359+35G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*541+35G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.510+35G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*14+35G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.408+35G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.784+35G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*404+35G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.477+35G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.408+35G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.477+35G>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.510+35G>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9663
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

3-48576652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576652
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576652
    reference: chr 3
allele count: 1
allele frequency: 8.673478238243101e-6
allele num: 115294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.477+35G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.510+35G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.408+35G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.359+35G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*541+35G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.510+35G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*404+35G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.408+35G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.477+35G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.784+35G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*14+35G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.510+35G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS

3-48576659-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576659
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576659
    reference: chr 3
allele count: 1
allele frequency: 8.622324923692425e-6
allele num: 115978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.784+28A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.477+28A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.477+28A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.408+28A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*541+28A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*14+28A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.510+28A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.408+28A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.359+28A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.510+28A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.510+28A>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*404+28A>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

3-48576665-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576665
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576665
    reference: chr 3
allele count: 1
allele frequency: 8.587376556462001e-6
allele num: 116450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*14+22G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.784+22G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.510+22G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.477+22G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*541+22G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.510+22G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.510+22G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.477+22G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.359+22G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.408+22G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.408+22G>C
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*404+22G>C
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25638
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

3-48576673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576673
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576673
    reference: chr 3
allele count: 1
allele frequency: 8.529948649709128e-6
allele num: 117234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.510+14C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.510+14C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.510+14C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*541+14C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.359+14C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*14+14C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.477+14C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.477+14C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.784+14C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*404+14C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.408+14C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.408+14C>T
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-48576673-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576673
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576673
    reference: chr 3
allele count: 1
allele frequency: 8.529948649709128e-6
allele num: 117234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.408+14C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.510+14C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.477+14C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.510+14C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*541+14C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.784+14C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*404+14C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.408+14C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.359+14C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.510+14C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.477+14C>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*14+14C>G
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

3-48576684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576684
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576684
    reference: chr 3
allele count: 1
allele frequency: 8.477593719798572e-6
allele num: 117958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.510+3G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.408+3G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*404+3G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.510+3G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.477+3G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*14+3G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.359+3G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.510+3G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.477+3G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.784+3G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.408+3G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*541+3G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27659
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.510+3G>A
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

3-48576689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576689
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576689
    reference: chr 3
allele count: 3
allele frequency: 2.537641684994079e-5
allele num: 118220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.508G>A
  hgvsp: ENSP00000373240.2:p.Val170Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.782G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.508G>A
  hgvsp: ENSP00000232375.3:p.Val170Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.508G>A
  hgvsp: ENSP00000388394.1:p.Val170Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*539G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.475G>A
  hgvsp: ENSP00000407657.1:p.Val159Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.406G>A
  hgvsp: ENSP00000437446.1:p.Val136Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.357G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.475G>A
  hgvsp: ENSP00000438908.1:p.Val159Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.406G>A
  hgvsp: ENSP00000393047.1:p.Val136Met
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*402G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val170Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-48576690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576690
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576690
    reference: chr 3
allele count: 1
allele frequency: 8.456516591685553e-6
allele num: 118252
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.507C>T
  hgvsp: ENST00000232375.3:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.507C>T
  hgvsp: ENST00000416568.1:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.474C>T
  hgvsp: ENST00000452531.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.474C>T
  hgvsp: ENST00000536104.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.507C>T
  hgvsp: ENST00000383734.2:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.356C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*538C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.405C>T
  hgvsp: ENST00000412035.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*401C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.781C>T
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.405C>T
  hgvsp: ENST00000541519.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile169Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

3-48576694-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576694
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576694
    reference: chr 3
allele count: 8
allele frequency: 6.755045174364603e-5
allele num: 118430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.401A>G
  hgvsp: ENSP00000437446.1:p.Asn134Ser
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.401A>G
  hgvsp: ENSP00000393047.1:p.Asn134Ser
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.503A>G
  hgvsp: ENSP00000388394.1:p.Asn168Ser
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.470A>G
  hgvsp: ENSP00000407657.1:p.Asn157Ser
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.503A>G
  hgvsp: ENSP00000373240.2:p.Asn168Ser
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.352A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*397A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*7A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.470A>G
  hgvsp: ENSP00000438908.1:p.Asn157Ser
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.503A>G
  hgvsp: ENSP00000232375.3:p.Asn168Ser
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.777A>G
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*534A>G
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn168Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

3-48576698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48576698
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48576698
    reference: chr 3
allele count: 1
allele frequency: 8.437109783672505e-6
allele num: 118524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000407657
  ensembl transcript: ENST00000452531
  gene symbol: PFKFB4
  hgvsc: ENST00000452531.1:c.466G>A
  hgvsp: ENSP00000407657.1:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000468162
  gene symbol: PFKFB4
  hgvsc: ENST00000468162.1:n.348G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000438908
  ensembl transcript: ENST00000536104
  gene symbol: PFKFB4
  hgvsc: ENST00000536104.1:c.466G>A
  hgvsp: ENSP00000438908.1:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114268
  ensembl transcript: ENST00000490115
  gene symbol: PFKFB4
  hgvsc: ENST00000490115.1:n.773G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000388394
  ensembl transcript: ENST00000416568
  gene symbol: PFKFB4
  hgvsc: ENST00000416568.1:c.499G>A
  hgvsp: ENSP00000388394.1:p.Ala167Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000373240
  ensembl transcript: ENST00000383734
  gene symbol: PFKFB4
  hgvsc: ENST00000383734.2:c.499G>A
  hgvsp: ENSP00000373240.2:p.Ala167Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000400772
  ensembl transcript: ENST00000445633
  gene symbol: PFKFB4
  hgvsc: ENST00000445633.1:c.*393G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437844
  ensembl transcript: ENST00000545984
  gene symbol: PFKFB4
  hgvsc: ENST00000545984.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000437446
  ensembl transcript: ENST00000541519
  gene symbol: PFKFB4
  hgvsc: ENST00000541519.1:c.397G>A
  hgvsp: ENSP00000437446.1:p.Ala133Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000393047
  ensembl transcript: ENST00000412035
  gene symbol: PFKFB4
  hgvsc: ENST00000412035.1:c.397G>A
  hgvsp: ENSP00000393047.1:p.Ala133Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000232375
  ensembl transcript: ENST00000232375
  gene symbol: PFKFB4
  hgvsc: ENST00000232375.3:c.499G>A
  hgvsp: ENSP00000232375.3:p.Ala167Thr
  variant of: http://identifiers.org/hgnc/8875
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114268
  ensembl protein: ENSP00000389169
  ensembl transcript: ENST00000417753
  gene symbol: PFKFB4
  hgvsc: ENST00000417753.1:c.*530G>A
  variant of: http://identifiers.org/hgnc/8875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala167Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: C

GenotypeQuality
all individuals: 472
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5758
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11475
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 440
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3833
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2288
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12514
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3692
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3054
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4513
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.904912836767037e-5
allele num: 10096
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13694
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64556
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.688e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.189e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 1.823257e6

GenotypeQuality
all individuals: 5559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3816
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2834
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3504
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2393
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11464
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1327
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4448
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11238
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.926543577526305e-5
allele num: 10074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.811103e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.54e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.779e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.557e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

FS
type: SiteQuality
SIO_000300: 5.195e0

QD
type: SiteQuality
SIO_000300: 1.548e1

GenotypeQuality
all individuals: 1280
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2770
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3074
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1849
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2600
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6535
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3042
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4358
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3789
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562207086171343e-5
allele num: 64012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13154
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.797533e6

MQRankSum
type: SiteQuality
SIO_000300: -4.468e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: -1.352e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.163e0

MQ
type: SiteQuality
SIO_000300: 5.628e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 5.0e-2

GenotypeQuality
all individuals: 10494
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5946
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22173
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3720
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65946
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.121449559255632e-5
allele num: 16336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.547e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.488e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

DP
type: SiteQuality
SIO_000300: 1.82369e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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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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bin: 1.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65928
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.137981831573779e-5
allele num: 16292
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.826461e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.48e-1

FS
type: SiteQuality
SIO_000300: 1.761e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5928
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 573
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-5
allele num: 65920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.62e-1

DP
type: SiteQuality
SIO_000300: 1.828732e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.793e1

FS
type: SiteQuality
SIO_000300: 3.988e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 832
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515381118351265e-5
allele num: 65990
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 5.946e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.632e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.833821e6

QD
type: SiteQuality
SIO_000300: 1.159e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.332e0

GenotypeQuality
all individuals: 5243
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 3712
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.850186e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

FS
type: SiteQuality
SIO_000300: 1.746e0

QD
type: SiteQuality
SIO_000300: 1.11e1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-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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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.759906304899473e-5
allele num: 10246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.814882032667876e-4
allele num: 66120
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.256871807346145e-4
allele num: 16444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.413e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.571e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.34e-2

MQ
type: SiteQuality
SIO_000300: 6.019e1

DP
type: SiteQuality
SIO_000300: 1.85054e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-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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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.170731707317073e-3
allele num: 10250
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66080
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.803e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

MQRankSum
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MQ
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QD
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

DP
type: SiteQuality
SIO_000300: 1.851955e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511578692786746e-5
allele num: 66156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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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BaseQRankSum
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DP
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SIO_000300: 1.853022e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66212
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.74089226573154e-5
allele num: 10266
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: -1.986e0

ReadPosRankSum
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SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
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SIO_000300: -2.0e-4

BaseQRankSum
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SIO_000300: -3.23e0

DP
type: SiteQuality
SIO_000300: 1.856217e6

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.127e1

MQ
type: SiteQuality
SIO_000300: 5.935e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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variant carriers: 8

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
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allele count: 8
allele frequency: 7.791195948578107e-4
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66220
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ClippingRankSum
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SIO_000300: -5.8e-1

BaseQRankSum
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SIO_000300: -1.303e0

FS
type: SiteQuality
SIO_000300: 2.232e0

InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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SIO_000300: 2.43e0

DP
type: SiteQuality
SIO_000300: 1.856674e6

MQRankSum
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SIO_000300: 4.73e-1

QD
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SIO_000300: 1.371e1

GenotypeDepth
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variant carriers: 1

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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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509388395822013e-5
allele num: 66252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.92e1

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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SIO_000300: -4.52e-1

VQSLOD
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ReadPosRankSum
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SIO_000300: -6.2e-2

FS
type: SiteQuality
SIO_000300: 1.2113e1

QD
type: SiteQuality
SIO_000300: 1.178e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

DP
type: SiteQuality
SIO_000300: 1.858185e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 8.75e1
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GenotypeQuality
all individuals: 25808
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
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: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-2

InbreedingCoeff
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SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.860268e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.475e1

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 57
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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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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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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4174
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.861534e6

ReadPosRankSum
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SIO_000300: 1.32e0

MQRankSum
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SIO_000300: 9.370000000000001e-1

FS
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SIO_000300: 1.8332e1

MQ
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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SIO_000300: -2.648e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
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MQ
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MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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FS
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DP
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BaseQRankSum
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SIO_000300: 2.3e-2

ReadPosRankSum
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SIO_000300: 5.12e-1

GenotypeDepth
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variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66376
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
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

ClippingRankSum
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InbreedingCoeff
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MQRankSum
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DP
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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MQ
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SIO_000300: 5.946e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele num: 16508
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European (Non-Finnish)
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allele frequency: 7.522643155899256e-5
allele num: 66466
num of homozygotes: 0

East Asian
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allele num: 8640
num of homozygotes: 0

African
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Latino
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num of homozygotes: 0

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

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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allele frequency: 0.0e0
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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FS
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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East Asian
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European (Non-Finnish)
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Other
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allele num: 900
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European (Finnish)
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allele num: 6614
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South Asian
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MQRankSum
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66522
num of homozygotes: 0

Latino
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East Asian
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allele num: 8640
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African
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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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FS
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SIO_000300: 1.265e0

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

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

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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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African
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South Asian
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European (Non-Finnish)
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East Asian
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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DP
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Finnish)
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Other
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East Asian
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African
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European (Non-Finnish)
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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VQSLOD
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DP
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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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East Asian
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South Asian
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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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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bin: 3.25e1
variant carriers: 0

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

South Asian
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African
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Other
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East Asian
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Latino
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European (Finnish)
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num of homozygotes: 0

FS
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MQ
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

Latino
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allele frequency: 2.593809441466367e-4
allele num: 11566
num of homozygotes: 0

South Asian
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Other
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European (Non-Finnish)
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allele num: 66620
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South Asian
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African
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DP
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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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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East Asian
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South Asian
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African
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Other
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Latino
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num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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MQ
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ClippingRankSum
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FS
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QD
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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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 num: 66636
num of homozygotes: 0

South Asian
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European (Finnish)
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num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 6.002040693835904e-5
allele num: 66644
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African
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South Asian
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East Asian
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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FS
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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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European (Non-Finnish)
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Other
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East Asian
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South Asian
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African
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European (Finnish)
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Latino
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QD
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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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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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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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

Other
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num of homozygotes: 0

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

East Asian
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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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num of homozygotes: 0

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

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

InbreedingCoeff
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DP
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SIO_000300: 1.867007e6

FS
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 1.72e-1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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BaseQRankSum
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SIO_000300: -4.131e0

ReadPosRankSum
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SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
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DP
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MQRankSum
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FS
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QD
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SIO_000300: 1.089e1

VQSLOD
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SIO_000300: -2.467e-1

ClippingRankSum
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SIO_000300: -1.67e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

South Asian
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allele num: 16504
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 4.06e0

BaseQRankSum
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SIO_000300: -1.26e-1

MQRankSum
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ClippingRankSum
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FS
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QD
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DP
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SIO_000300: 1.865671e6

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 3.0e-4

ReadPosRankSum
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SIO_000300: 5.34e-1

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

DP
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SIO_000300: 1.865197e6

ReadPosRankSum
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SIO_000300: 1.07e0

FS
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SIO_000300: 6.239e0

InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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SIO_000300: 1.532e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
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SIO_000300: 3.31e0

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: 6604
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66608
num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: -4.69e-1

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

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

European (Non-Finnish)
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allele num: 66576
num of homozygotes: 0

African
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num of homozygotes: 0

Latino
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Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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DP
type: SiteQuality
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MQ
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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FS
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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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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10294
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5553
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 315
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

DP
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SIO_000300: 1.842472e6

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

BaseQRankSum
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SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 5.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeDepth
all individuals: 52
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 197
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GenotypeQuality
all individuals: 224
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009872381411028e-5
allele num: 66448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
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: 16480
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.841487e6

ReadPosRankSum
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SIO_000300: -1.6e-2

ClippingRankSum
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SIO_000300: -4.33e-1

QD
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SIO_000300: 1.193e1

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 1.398e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 174
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GenotypeQuality
all individuals: 5540
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66462
num of homozygotes: 0

African
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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: 6596
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.17e-1

FS
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SIO_000300: 1.854e0

ClippingRankSum
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SIO_000300: -1.318e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 8.69e0

DP
type: SiteQuality
SIO_000300: 1.839749e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.711e0

GenotypeDepth
all individuals: 22
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4940
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5528
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.821493624772313e-4
allele num: 16470
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.034e1

MQRankSum
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SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.824939e6

ReadPosRankSum
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SIO_000300: 8.79e-1

FS
type: SiteQuality
SIO_000300: 1.916e0

ClippingRankSum
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SIO_000300: -1.553e0

QD
type: SiteQuality
SIO_000300: 1.512e1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

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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variant carriers: 57

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.527481814614711e-5
allele num: 66262
num of homozygotes: 0

African
type: Population
allele count: 48
allele frequency: 4.682926829268293e-3
allele num: 10250
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.214670606640013e-4
allele num: 11506
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.548e0

ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.766345e6

InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.401e1

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
all individuals: 4713
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65782
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.384e-1

InbreedingCoeff
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BaseQRankSum
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FS
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2021
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GenotypeQuality
all individuals: 5499
bin: 9.75e1
variant carriers: 19

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.521467912241731e-4
allele num: 65726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.847924659923265e-4
allele num: 11468
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
type: Population
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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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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.385e0

DP
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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MQRankSum
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VQSLOD
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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

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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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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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.043584124665206e-5
allele num: 65712
num of homozygotes: 0

South Asian
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ReadPosRankSum
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SIO_000300: 9.69e-1

MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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BaseQRankSum
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SIO_000300: -2.114e0

FS
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MQRankSum
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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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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

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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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.522023682688503e-5
allele num: 65702
num of homozygotes: 0

South Asian
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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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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Latino
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num of homozygotes: 0

Other
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African
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European (Finnish)
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num of homozygotes: 0

East Asian
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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DP
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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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

East Asian
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allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.248166755078479e-4
allele num: 64094
num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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FS
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InbreedingCoeff
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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European (Finnish)
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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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MQRankSum
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BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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QD
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FS
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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East Asian
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South Asian
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Latino
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African
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Other
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QD
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 9.260974254491573e-5
allele num: 10798
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 669
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.349206349206349e-5
allele num: 15750
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65050
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9670
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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

InbreedingCoeff
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SIO_000300: 4.0e-4

MQRankSum
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SIO_000300: 9.28e-1

FS
type: SiteQuality
SIO_000300: 3.495e0

VQSLOD
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BaseQRankSum
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SIO_000300: -8.51e-1

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.296e1

DP
type: SiteQuality
SIO_000300: 1.842705e6

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
all individuals: 1849
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.174812030075188e-4
allele num: 8512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65050
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.495e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
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SIO_000300: 9.28e-1

MQ
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SIO_000300: 6.0e1

DP
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ClippingRankSum
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SIO_000300: -1.86e-1

BaseQRankSum
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SIO_000300: -8.51e-1

QD
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SIO_000300: 1.296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 272
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GenotypeQuality
all individuals: 35501
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15868
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529519730804527e-5
allele num: 65380
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

DP
type: SiteQuality
SIO_000300: 1.8602e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.027e1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
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SIO_000300: -3.013e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.622e0

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 334
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GenotypeQuality
all individuals: 629
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.580432392817882e-5
allele num: 65496
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

FS
type: SiteQuality
SIO_000300: 2.777e0

DP
type: SiteQuality
SIO_000300: 1.867689e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

QD
type: SiteQuality
SIO_000300: 9.75e0

GenotypeDepth
all individuals: 746
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variant carriers: 0

GenotypeDepth
all individuals: 921
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variant carriers: 0

GenotypeDepth
all individuals: 213
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GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9004
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variant carriers: 1

GenotypeQuality
all individuals: 1875
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.975049362771496e-5
allele num: 11142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65536
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.869007e6

ClippingRankSum
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SIO_000300: 1.23e0

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: -9.26e-1

VQSLOD
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SIO_000300: -3.574e0

InbreedingCoeff
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SIO_000300: -3.0e-4

MQRankSum
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SIO_000300: 5.53e-1

QD
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SIO_000300: 3.028e1

FS
type: SiteQuality
SIO_000300: 1.263e0

BaseQRankSum
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SIO_000300: -1.371e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 400
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.144668658172285e-5
allele num: 65612
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
type: Population
allele count: 2
allele frequency: 1.254547735541337e-4
allele num: 15942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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MQRankSum
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SIO_000300: 2.53e-1

FS
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InbreedingCoeff
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DP
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 2.9e-1

VQSLOD
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SIO_000300: 5.21e0

QD
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SIO_000300: 1.263e1

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 (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65654
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166861143523921e-4
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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