12-48531570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531570
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531570
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1216G>A
  hgvsp: ENSP00000345771.6:p.Val406Ile
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2984G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.910G>A
  hgvsp: ENSP00000448177.1:p.Val304Ile
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447774
  ensembl transcript: ENST00000552989
  gene symbol: PFKM
  hgvsc: ENST00000552989.1:c.*308G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1003G>A
  hgvsp: ENSP00000309438.7:p.Val335Ile
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1003G>A
  hgvsp: ENSP00000352842.5:p.Val335Ile
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1327G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.431G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.910G>A
  hgvsp: ENSP00000378656.2:p.Val304Ile
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1003G>A
  hgvsp: ENSP00000449426.1:p.Val335Ile
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1271G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val406Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-48531571-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531571
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531571
    reference: chr 12
allele count: 41
allele frequency: 3.376931440055349e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1217T>C
  hgvsp: ENSP00000345771.6:p.Val406Ala
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.911T>C
  hgvsp: ENSP00000378656.2:p.Val304Ala
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1004T>C
  hgvsp: ENSP00000449426.1:p.Val335Ala
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1272T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1004T>C
  hgvsp: ENSP00000352842.5:p.Val335Ala
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447774
  ensembl transcript: ENST00000552989
  gene symbol: PFKM
  hgvsc: ENST00000552989.1:c.*309T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.911T>C
  hgvsp: ENSP00000448177.1:p.Val304Ala
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1004T>C
  hgvsp: ENSP00000309438.7:p.Val335Ala
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2983T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1328T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.432T>C
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val406Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum

12-48531581-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531581
    reference: chr 12
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.921C>G
  hgvsp: ENST00000395233.2:c.921C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1227C>G
  hgvsp: ENST00000340802.6:c.1227C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1014C>G
  hgvsp: ENST00000312352.7:c.1014C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1338C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1014C>G
  hgvsp: ENST00000547587.1:c.1014C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447774
  ensembl transcript: ENST00000552989
  gene symbol: PFKM
  hgvsc: ENST00000552989.1:c.*319C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1014C>G
  hgvsp: ENST00000359794.5:c.1014C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.921C>G
  hgvsp: ENST00000551804.1:c.921C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.8C>G
  hgvsp: ENST00000552752.1:c.8C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.442C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2973C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1282C>G
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu409Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-48531589-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531589
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1022A>C
  hgvsp: ENSP00000352842.5:p.Asn341Thr
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1022A>C
  hgvsp: ENSP00000449426.1:p.Asn341Thr
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1290A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.16A>C
  hgvsp: ENSP00000446740.1:p.Asn6Thr
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.450A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447774
  ensembl transcript: ENST00000552989
  gene symbol: PFKM
  hgvsc: ENST00000552989.1:c.*327A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.929A>C
  hgvsp: ENSP00000378656.2:p.Asn310Thr
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1235A>C
  hgvsp: ENSP00000345771.6:p.Asn412Thr
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.929A>C
  hgvsp: ENSP00000448177.1:p.Asn310Thr
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1022A>C
  hgvsp: ENSP00000309438.7:p.Asn341Thr
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1346A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2965A>C
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn412Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-48531591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531591
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531591
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447774
  ensembl transcript: ENST00000552989
  gene symbol: PFKM
  hgvsc: ENST00000552989.1:c.*329C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1024C>T
  hgvsp: ENSP00000449426.1:p.Gln342Ter
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1348C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.931C>T
  hgvsp: ENSP00000448177.1:p.Gln311Ter
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1024C>T
  hgvsp: ENSP00000309438.7:p.Gln342Ter
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2963C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.18C>T
  hgvsp: ENSP00000446740.1:p.Gln7Ter
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1024C>T
  hgvsp: ENSP00000352842.5:p.Gln342Ter
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1237C>T
  hgvsp: ENSP00000345771.6:p.Gln413Ter
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.452C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.931C>T
  hgvsp: ENSP00000378656.2:p.Gln311Ter
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1292C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln413Ter
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

12-48531593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531593
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531593
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1294G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447774
  ensembl transcript: ENST00000552989
  gene symbol: PFKM
  hgvsc: ENST00000552989.1:c.*331G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.20G>A
  hgvsp: ENST00000552752.1:c.20G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.933G>A
  hgvsp: ENST00000551804.1:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1239G>A
  hgvsp: ENST00000340802.6:c.1239G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2961G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1026G>A
  hgvsp: ENST00000547587.1:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.933G>A
  hgvsp: ENST00000395233.2:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1350G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1026G>A
  hgvsp: ENST00000312352.7:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.454G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1026G>A
  hgvsp: ENST00000359794.5:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln413Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

12-48531594-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531594
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531594
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1027G>T
  hgvsp: ENSP00000449426.1:p.Ala343Ser
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1295G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.934G>T
  hgvsp: ENSP00000448177.1:p.Ala312Ser
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1240G>T
  hgvsp: ENSP00000345771.6:p.Ala414Ser
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447774
  ensembl transcript: ENST00000552989
  gene symbol: PFKM
  hgvsc: ENST00000552989.1:c.*332G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.934G>T
  hgvsp: ENSP00000378656.2:p.Ala312Ser
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1027G>T
  hgvsp: ENSP00000309438.7:p.Ala343Ser
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.21G>T
  hgvsp: ENSP00000446740.1:p.Ala8Ser
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1351G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2960G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1027G>T
  hgvsp: ENSP00000352842.5:p.Ala343Ser
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.455G>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala414Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

12-48531597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531597
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531597
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1030G>A
  hgvsp: ENSP00000352842.5:p.Val344Met
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1298G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1243G>A
  hgvsp: ENSP00000345771.6:p.Val415Met
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.24G>A
  hgvsp: ENSP00000446740.1:p.Val9Met
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.937G>A
  hgvsp: ENSP00000378656.2:p.Val313Met
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1354G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2957G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447774
  ensembl transcript: ENST00000552989
  gene symbol: PFKM
  hgvsc: ENST00000552989.1:c.*335G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1030G>A
  hgvsp: ENSP00000449426.1:p.Val344Met
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1030G>A
  hgvsp: ENSP00000309438.7:p.Val344Met
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.458G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.937G>A
  hgvsp: ENSP00000448177.1:p.Val313Met
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val415Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-48531600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531600
    reference: chr 12
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.940C>T
  hgvsp: ENSP00000448177.1:p.Arg314Cys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1033C>T
  hgvsp: ENSP00000449426.1:p.Arg345Cys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.940C>T
  hgvsp: ENSP00000378656.2:p.Arg314Cys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1246C>T
  hgvsp: ENSP00000345771.6:p.Arg416Cys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1033C>T
  hgvsp: ENSP00000352842.5:p.Arg345Cys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.27C>T
  hgvsp: ENSP00000446740.1:p.Arg10Cys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1033C>T
  hgvsp: ENSP00000309438.7:p.Arg345Cys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1301C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1357C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.461C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2954C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg416Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-48531601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531601
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531601
    reference: chr 12
allele count: 6
allele frequency: 4.942013705851344e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.941G>A
  hgvsp: ENSP00000448177.1:p.Arg314His
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2953G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1034G>A
  hgvsp: ENSP00000449426.1:p.Arg345His
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1034G>A
  hgvsp: ENSP00000309438.7:p.Arg345His
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.941G>A
  hgvsp: ENSP00000378656.2:p.Arg314His
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.28G>A
  hgvsp: ENSP00000446740.1:p.Arg10His
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1247G>A
  hgvsp: ENSP00000345771.6:p.Arg416His
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1034G>A
  hgvsp: ENSP00000352842.5:p.Arg345His
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1302G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1358G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.462G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg416His
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS

12-48531611-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531611
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531611
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.472C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2943C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1044C>G
  hgvsp: ENST00000359794.5:c.1044C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.951C>G
  hgvsp: ENST00000395233.2:c.951C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1257C>G
  hgvsp: ENST00000340802.6:c.1257C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1044C>G
  hgvsp: ENST00000547587.1:c.1044C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1312C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1368C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.951C>G
  hgvsp: ENST00000551804.1:c.951C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.38C>G
  hgvsp: ENST00000552752.1:c.38C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1044C>G
  hgvsp: ENST00000312352.7:c.1044C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu419Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-48531629-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531629
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531629
    reference: chr 12
allele count: 14
allele frequency: 1.153117535623095e-4
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.969G>T
  hgvsp: ENST00000551804.1:c.969G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.969G>T
  hgvsp: ENST00000395233.2:c.969G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.56G>T
  hgvsp: ENST00000552752.1:c.56G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1330G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1062G>T
  hgvsp: ENST00000547587.1:c.1062G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2925G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.490G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1275G>T
  hgvsp: ENST00000340802.6:c.1275G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1062G>T
  hgvsp: ENST00000359794.5:c.1062G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1386G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1062G>T
  hgvsp: ENST00000312352.7:c.1062G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1275G>T
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-48531630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531630
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531630
    reference: chr 12
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1062+1G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2924G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.56+1G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.490+1G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1062+1G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1330+1G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.969+1G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1275+1G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1062+1G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1386+1G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.969+1G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1275+1G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-48531637-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531637
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531637
    reference: chr 12
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1062+8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1062+8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1275+8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.969+8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1062+8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.969+8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1386+8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.56+8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1330+8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2917C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.490+8C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1275+8C>T
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-48531639-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531639
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531639
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1275+10G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1330+10G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1062+10G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1062+10G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.969+10G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1062+10G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.490+10G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.56+10G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.969+10G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2915G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1386+10G>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

12-48531661-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531661
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531661
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1386+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1062+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.490+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.969+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1062+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1275+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1062+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.969+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2893A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1330+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.56+32A>G
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-48531662-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531662
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531662
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1386+33C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1275+33C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.56+33C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.969+33C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1062+33C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.490+33C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1330+33C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2892C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1062+33C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.969+33C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1062+33C>G
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-48531663-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531663
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531663
    reference: chr 12
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.490+34T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.969+34T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1062+34T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1062+34T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.969+34T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1062+34T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1275+34T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1330+34T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.56+34T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1386+34T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2891T>C
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-48531666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531666
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531666
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1330+37C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.56+37C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1062+37C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1062+37C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2888C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1062+37C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.490+37C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1275+37C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.969+37C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1386+37C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.969+37C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-48531670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531670
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531670
    reference: chr 12
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.56+41C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.969+41C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.969+41C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1330+41C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1062+41C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1062+41C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2884C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1275+41C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.490+41C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1062+41C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1386+41C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-48531671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531671
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531671
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1062+42C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1330+42C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1386+42C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.490+42C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.969+42C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1062+42C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.969+42C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1275+42C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.56+42C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2883C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1062+42C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-48531676-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531676
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531676
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1062+47C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1062+47C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1062+47C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1386+47C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.969+47C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1275+47C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1330+47C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.490+47C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.56+47C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.969+47C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2878C>A
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

12-48531681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48531681
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48531681
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1275+52G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.56+52G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.490+52G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.969+52G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1062+52G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-2873G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1062+52G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1330+52G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.969+52G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1062+52G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1386+52G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-48533017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533017
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533017
    reference: chr 12
allele count: 2
allele frequency: 1.662344570782632e-5
allele num: 120312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1537G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11654
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/12-48533023-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533023
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533023
    reference: chr 12
allele count: 43
allele frequency: 3.569234855653502e-4
allele num: 120474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-45A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-45A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-45A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-45A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-45A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-45A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-45A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1531A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-45A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-45A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-45A>C
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12535
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16282
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9660
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-48533044-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533044
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533044
    reference: chr 12
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-24A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-24A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-24A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-24A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1510A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-24A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-24A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-24A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-24A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-24A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-24A>G
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15946
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7192
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

12-48533049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533049
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533049
    reference: chr 12
allele count: 2
allele frequency: 1.65456079683648e-5
allele num: 120878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-19C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-19C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1505C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-19C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-19C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-19C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-19C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-19C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-19C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-19C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-19C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-48533050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533050
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533050
    reference: chr 12
allele count: 4
allele frequency: 3.308355251186872e-5
allele num: 120906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-18G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-18G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-18G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-18G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1504G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-18G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-18G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-18G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-18G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-18G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-18G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-48533057-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533057
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533058
    reference: chr 12
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-5dupC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-5dupC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-5dupC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1491dupC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-5dupC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-5dupC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-5dupC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-5dupC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-5dupC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-5dupC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-5dupC
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-48533057-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533057
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533056
    reference: chr 12
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-5delC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-5delC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-5delC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-5delC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-5delC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1491delC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-5delC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-5delC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-5delC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-5delC
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-5delC
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: TC
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

12-48533058-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533058
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533058
    reference: chr 12
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-10C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-10C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-10C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-10C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-10C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-10C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-10C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-10C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-10C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-10C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1496C>G
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

12-48533060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533060
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533060
    reference: chr 12
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1494C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-8C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-8C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1276-8C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum

12-48533061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533061
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533061
    reference: chr 12
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-7C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-7C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-7C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-7C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-7C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1493C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-7C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-7C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-7C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-7C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-7C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1276-7C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-48533062-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533062
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533062
    reference: chr 12
allele count: 4
allele frequency: 3.302237265747544e-5
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-6C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-6C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-6C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1492C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-6C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-6C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-6C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-6C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-6C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-6C>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-6C>A
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16403
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1276-6C>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-48533062-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533062
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533062
    reference: chr 12
allele count: 10
allele frequency: 8.25559316436886e-5
allele num: 121130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-6C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-6C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-6C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-6C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-6C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-6C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-6C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1492C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-6C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-6C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-6C>G
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.1276-6C>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

12-48533062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533062
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533062
    reference: chr 12
allele count: 2
allele frequency: 1.651118632873772e-5
allele num: 121130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-6C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-6C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-6C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-6C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-6C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-6C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-6C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1492C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-6C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-6C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-6C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.1276-6C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-48533063-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533063
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533063
    reference: chr 12
allele count: 8
allele frequency: 6.603493247928155e-5
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.970-5C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1387-5C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1276-5C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.57-5C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1063-5C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1063-5C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1491C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1331-5C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.491-5C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1063-5C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.970-5C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18162
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1276-5C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

12-48533087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533087
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533087
    reference: chr 12
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1467C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1350C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.510C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.76C>T
  hgvsp: ENSP00000446740.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.989C>T
  hgvsp: ENSP00000378656.2:p.Ala330Val
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1406C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1082C>T
  hgvsp: ENSP00000352842.5:p.Ala361Val
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1082C>T
  hgvsp: ENSP00000449426.1:p.Ala361Val
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.989C>T
  hgvsp: ENSP00000448177.1:p.Ala330Val
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1082C>T
  hgvsp: ENSP00000309438.7:p.Ala361Val
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1295C>T
  hgvsp: ENSP00000345771.6:p.Ala432Val
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala432Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

12-48533091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533091
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533091
    reference: chr 12
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1086G>A
  hgvsp: ENSP00000309438.7:p.Met362Ile
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1299G>A
  hgvsp: ENSP00000345771.6:p.Met433Ile
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.80G>A
  hgvsp: ENSP00000446740.1:p.Met27Ile
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1463G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1354G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1086G>A
  hgvsp: ENSP00000352842.5:p.Met362Ile
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.993G>A
  hgvsp: ENSP00000448177.1:p.Met331Ile
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1086G>A
  hgvsp: ENSP00000449426.1:p.Met362Ile
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.514G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.993G>A
  hgvsp: ENSP00000378656.2:p.Met331Ile
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1410G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met433Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

12-48533092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533092
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533092
    reference: chr 12
allele count: 9
allele frequency: 7.419498441905327e-5
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.994G>A
  hgvsp: ENSP00000448177.1:p.Asp332Asn
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1087G>A
  hgvsp: ENSP00000352842.5:p.Asp363Asn
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1355G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1462G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.994G>A
  hgvsp: ENSP00000378656.2:p.Asp332Asn
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.81G>A
  hgvsp: ENSP00000446740.1:p.Asp28Asn
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1087G>A
  hgvsp: ENSP00000309438.7:p.Asp363Asn
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1300G>A
  hgvsp: ENSP00000345771.6:p.Asp434Asn
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.515G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1411G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1087G>A
  hgvsp: ENSP00000449426.1:p.Asp363Asn
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Asp434Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

12-48533104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533104
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533104
    reference: chr 12
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1099T>C
  hgvsp: ENSP00000449426.1:p.Phe367Leu
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.93T>C
  hgvsp: ENSP00000446740.1:p.Phe32Leu
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1423T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1006T>C
  hgvsp: ENSP00000378656.2:p.Phe336Leu
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1450T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1367T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1312T>C
  hgvsp: ENSP00000345771.6:p.Phe438Leu
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.527T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1099T>C
  hgvsp: ENSP00000309438.7:p.Phe367Leu
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1099T>C
  hgvsp: ENSP00000352842.5:p.Phe367Leu
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1006T>C
  hgvsp: ENSP00000448177.1:p.Phe336Leu
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe438Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-48533109-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533109
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533109
    reference: chr 12
allele count: 4
allele frequency: 3.298751422586551e-5
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1104C>T
  hgvsp: ENST00000312352.7:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.532C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.98C>T
  hgvsp: ENST00000552752.1:c.98C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1011C>T
  hgvsp: ENST00000395233.2:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1428C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1445C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1011C>T
  hgvsp: ENST00000551804.1:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1317C>T
  hgvsp: ENST00000340802.6:c.1317C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1372C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1104C>T
  hgvsp: ENST00000547587.1:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1104C>T
  hgvsp: ENST00000359794.5:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16311
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp439Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

12-48533110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533110
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533110
    reference: chr 12
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1318G>A
  hgvsp: ENSP00000345771.6:p.Glu440Lys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1012G>A
  hgvsp: ENSP00000378656.2:p.Glu338Lys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.533G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1105G>A
  hgvsp: ENSP00000352842.5:p.Glu369Lys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1105G>A
  hgvsp: ENSP00000449426.1:p.Glu369Lys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1429G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1012G>A
  hgvsp: ENSP00000448177.1:p.Glu338Lys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.99G>A
  hgvsp: ENSP00000446740.1:p.Glu34Lys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1105G>A
  hgvsp: ENSP00000309438.7:p.Glu369Lys
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1373G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1444G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10037
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu440Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-48533113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533113
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533113
    reference: chr 12
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1108G>A
  hgvsp: ENSP00000352842.5:p.Ala370Thr
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1108G>A
  hgvsp: ENSP00000449426.1:p.Ala370Thr
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1108G>A
  hgvsp: ENSP00000309438.7:p.Ala370Thr
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1321G>A
  hgvsp: ENSP00000345771.6:p.Ala441Thr
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1376G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1015G>A
  hgvsp: ENSP00000378656.2:p.Ala339Thr
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1441G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.536G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1432G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.102G>A
  hgvsp: ENSP00000446740.1:p.Ala35Thr
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1015G>A
  hgvsp: ENSP00000448177.1:p.Ala339Thr
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala441Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-48533114-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533114
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533114
    reference: chr 12
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1377C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1433C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1016C>G
  hgvsp: ENSP00000378656.2:p.Ala339Gly
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.103C>G
  hgvsp: ENSP00000446740.1:p.Ala35Gly
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1109C>G
  hgvsp: ENSP00000449426.1:p.Ala370Gly
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1322C>G
  hgvsp: ENSP00000345771.6:p.Ala441Gly
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.537C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1109C>G
  hgvsp: ENSP00000352842.5:p.Ala370Gly
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1109C>G
  hgvsp: ENSP00000309438.7:p.Ala370Gly
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1440C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1016C>G
  hgvsp: ENSP00000448177.1:p.Ala339Gly
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala441Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

12-48533120-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533120
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533120
    reference: chr 12
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1328A>G
  hgvsp: ENSP00000345771.6:p.Lys443Arg
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1439A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1022A>G
  hgvsp: ENSP00000378656.2:p.Lys341Arg
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1115A>G
  hgvsp: ENSP00000449426.1:p.Lys372Arg
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1383A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1434A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.109A>G
  hgvsp: ENSP00000446740.1:p.Lys37Arg
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1115A>G
  hgvsp: ENSP00000352842.5:p.Lys372Arg
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.543A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1022A>G
  hgvsp: ENSP00000448177.1:p.Lys341Arg
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1115A>G
  hgvsp: ENSP00000309438.7:p.Lys372Arg
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys443Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-48533131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533131
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533131
    reference: chr 12
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.120C>T
  hgvsp: ENSP00000446740.1:p.Arg41Trp
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1126C>T
  hgvsp: ENSP00000309438.7:p.Arg376Trp
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1423C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1450C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1033C>T
  hgvsp: ENSP00000378656.2:p.Arg345Trp
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1339C>T
  hgvsp: ENSP00000345771.6:p.Arg447Trp
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1126C>T
  hgvsp: ENSP00000449426.1:p.Arg376Trp
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1033C>T
  hgvsp: ENSP00000448177.1:p.Arg345Trp
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1126C>T
  hgvsp: ENSP00000352842.5:p.Arg376Trp
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.554C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1394C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg447Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-48533132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533132
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533132
    reference: chr 12
allele count: 3
allele frequency: 2.478847170809096e-5
allele num: 121024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1422G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034G>A
  hgvsp: ENSP00000378656.2:p.Arg345Gln
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.121G>A
  hgvsp: ENSP00000446740.1:p.Arg41Gln
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127G>A
  hgvsp: ENSP00000309438.7:p.Arg376Gln
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127G>A
  hgvsp: ENSP00000449426.1:p.Arg376Gln
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034G>A
  hgvsp: ENSP00000448177.1:p.Arg345Gln
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127G>A
  hgvsp: ENSP00000352842.5:p.Arg376Gln
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340G>A
  hgvsp: ENSP00000345771.6:p.Arg447Gln
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg447Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-48533137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533137
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533137
    reference: chr 12
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1417G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+5G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+5G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+5G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+5G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+5G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+5G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+5G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+5G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+5G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1340+5G>A
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

12-48533138-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533138
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533138
    reference: chr 12
allele count: 3
allele frequency: 2.481143310837634e-5
allele num: 120912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+6G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+6G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+6G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+6G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+6G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1416G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*2G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+6G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+6G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+6G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+6G>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1340+6G>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

12-48533142-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533142
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533142
    reference: chr 12
allele count: 3
allele frequency: 2.48216974731512e-5
allele num: 120862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+10T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+10T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+10T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*6T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+10T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+10T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1412T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+10T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+10T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+10T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+10T>C
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

12-48533145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533145
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533145
    reference: chr 12
allele count: 6
allele frequency: 4.967298617435218e-5
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+13C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*9C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+13C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1409C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+13C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+13C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+13C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+13C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+13C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+13C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+13C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

12-48533147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533147
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533147
    reference: chr 12
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+15G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+15G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+15G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+15G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+15G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+15G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+15G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+15G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+15G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1407G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

12-48533151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533151
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533151
    reference: chr 12
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*15G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+19G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+19G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+19G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+19G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+19G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+19G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+19G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1403G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+19G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+19G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6946
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS

12-48533151-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533151
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533151
    reference: chr 12
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+19G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+19G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*15G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+19G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+19G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+19G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+19G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+19G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+19G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+19G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1403G>T
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11612
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

12-48533163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533163
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533163
    reference: chr 12
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1391C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+31C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*27C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+31C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+31C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+31C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+31C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+31C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+31C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+31C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+31C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12116
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11602
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

12-48533164-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533164
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533164
    reference: chr 12
allele count: 1
allele frequency: 8.304820117596252e-6
allele num: 120412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*28A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1390A>G
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-48533168-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533168
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533168
    reference: chr 12
allele count: 2
allele frequency: 1.661654010401954e-5
allele num: 120362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*32A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+36A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+36A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1386A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+36A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+36A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+36A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+36A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+36A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+36A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+36A>G
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10706
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

12-48533170-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533170
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533170
    reference: chr 12
allele count: 1
allele frequency: 8.315870006320061e-6
allele num: 120252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1384C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+38C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+38C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*34C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+38C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+38C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+38C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+38C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+38C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+38C>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+38C>G
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11599
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-48533175-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533175
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533175
    reference: chr 12
allele count: 46
allele frequency: 3.835762649678129e-4
allele num: 119924
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+43G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1379G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+43G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*39G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+43G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+43G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+43G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+43G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+43G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+43G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+43G>C
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10252
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13180
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8648
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-48533176-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533176
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533176
    reference: chr 12
allele count: 3
allele frequency: 2.504884524823406e-5
allele num: 119766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1378C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+44C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+44C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+44C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+44C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+44C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+44C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+44C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+44C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+44C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD

12-48533177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533177
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533177
    reference: chr 12
allele count: 1
allele frequency: 8.362882183715796e-6
allele num: 119576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+45G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+45G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+45G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+45G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+45G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1377G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+45G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+45G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+45G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+45G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12337
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

12-48533181-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533181
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533181
    reference: chr 12
allele count: 1
allele frequency: 8.386306838194597e-6
allele num: 119242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+49A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1373A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+49A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+49A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+49A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+49A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*45A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+49A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+49A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+49A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+49A>G
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4996
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-48533183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533183
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533183
    reference: chr 12
allele count: 1
allele frequency: 8.426303549159055e-6
allele num: 118676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1340+51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1451+51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1127+51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-1371G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1127+51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1034+51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1395+51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1034+51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1127+51G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.555+51G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8532
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

12-48533583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533583
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533583
    reference: chr 12
allele count: 2
allele frequency: 1.775473607584823e-5
allele num: 112646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1128-49C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*152-49C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.556-49C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1035-49C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1128-49C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1341-49C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-971C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1396-49C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1035-49C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1452-49C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1128-49C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12049
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11419
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

12-48533588-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533588
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533588
    reference: chr 12
allele count: 5
allele frequency: 4.424308922946236e-5
allele num: 113012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1035-44G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-966G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*152-44G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1341-44G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1128-44G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1128-44G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.556-44G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1396-44G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1128-44G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1452-44G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1035-44G>C
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13825
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9408
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

12-48533596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533596
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533596
    reference: chr 12
allele count: 3
allele frequency: 2.640891564992342e-5
allele num: 113598
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1341-36C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1035-36C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1128-36C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1035-36C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1128-36C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*152-36C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.556-36C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1128-36C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-958C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1396-36C>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1452-36C>T
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10309
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-48533599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48533599
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48533599
    reference: chr 12
allele count: 2
allele frequency: 1.755772100781318e-5
allele num: 113910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000309438
  ensembl transcript: ENST00000312352
  gene symbol: PFKM
  hgvsc: ENST00000312352.7:c.1128-33G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000448177
  ensembl transcript: ENST00000551804
  gene symbol: PFKM
  hgvsc: ENST00000551804.1:c.1035-33G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000447992
  ensembl transcript: ENST00000547581
  gene symbol: PFKM
  hgvsc: ENST00000547581.1:c.*1396-33G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000546964
  gene symbol: PFKM
  hgvsc: ENST00000546964.1:n.1452-33G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449426
  ensembl transcript: ENST00000547587
  gene symbol: PFKM
  hgvsc: ENST00000547587.1:c.1128-33G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000352842
  ensembl transcript: ENST00000359794
  gene symbol: PFKM
  hgvsc: ENST00000359794.5:c.1128-33G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000378656
  ensembl transcript: ENST00000395233
  gene symbol: PFKM
  hgvsc: ENST00000395233.2:c.1035-33G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000345771
  ensembl transcript: ENST00000340802
  gene symbol: PFKM
  hgvsc: ENST00000340802.6:c.1341-33G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446740
  ensembl transcript: ENST00000552752
  gene symbol: PFKM
  hgvsc: ENST00000552752.1:c.*152-33G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl transcript: ENST00000547148
  gene symbol: PFKM
  hgvsc: ENST00000547148.1:n.556-33G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000446519
  ensembl transcript: ENST00000546465
  gene symbol: PFKM
  hgvsc: ENST00000546465.1:c.86-955G>A
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 4349
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46446
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2815
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2348
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1264
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 3.033383e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.285e0

MQRankSum
type: SiteQuality
SIO_000300: -7.21e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

FS
type: SiteQuality
SIO_000300: 1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.154e1

GenotypeDepth
all individuals: 699
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2348
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 46457
bin: 9.75e1
variant carriers: 41

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

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1653
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2060
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 31
allele frequency: 4.68702751738736e-3
allele num: 6614
num of homozygotes: 0

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

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048846269103986e-4
allele num: 66740
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e0

DP
type: SiteQuality
SIO_000300: 3.03573e6

QD
type: SiteQuality
SIO_000300: 1.484e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

GenotypeDepth
all individuals: 1328
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8147
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 898
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46456
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2062
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2371
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 2351
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 1.365e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

DP
type: SiteQuality
SIO_000300: 3.034923e6

VQSLOD
type: SiteQuality
SIO_000300: -8.152e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.6e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e0

GenotypeDepth
all individuals: 4349
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7189
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8147
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46456
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2814
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

FS
type: SiteQuality
SIO_000300: 1.551e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 3.034888e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.268e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e0

VQSLOD
type: SiteQuality
SIO_000300: 9.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeDepth
all individuals: 699
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5456
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1415
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46456
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2814
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2373
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1727
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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Other
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East Asian
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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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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bin: 7.25e1
variant carriers: 0

African
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European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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East Asian
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Latino
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Other
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South Asian
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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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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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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African
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South Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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DP
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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FS
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SIO_000300: 9.64e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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East Asian
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South Asian
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Latino
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European (Finnish)
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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MQ
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DP
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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DP
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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East Asian
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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South Asian
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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Other
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East Asian
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QD
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 7.53e-1

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

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66738
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66738
num of homozygotes: 0

Other
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African
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

African
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allele num: 10404
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South Asian
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Latino
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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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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Other
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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European (Finnish)
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QD
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VQSLOD
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DP
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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Latino
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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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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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.267e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.205e0

QD
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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
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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: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

QD
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SIO_000300: 1.336e1

InbreedingCoeff
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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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MQ
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SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

ClippingRankSum
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SIO_000300: -2.31e-1

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

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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DP
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ClippingRankSum
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SIO_000300: -5.2e-2

BaseQRankSum
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MQRankSum
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SIO_000300: 1.39e0

QD
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VQSLOD
type: SiteQuality
SIO_000300: -2.515e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

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

African
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allele frequency: 0.0e0
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 1.4e-2

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -2.749e0

MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -1.41e-1

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

African
type: Population
allele count: 2
allele frequency: 1.958863858961802e-4
allele num: 10210
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
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DP
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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QD
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SIO_000300: 9.65e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 43

Other
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allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

African
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allele count: 17
allele frequency: 1.660805001953888e-3
allele num: 10236
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.038322487346348e-5
allele num: 66384
num of homozygotes: 0

European (Finnish)
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allele frequency: 3.040437823046519e-4
allele num: 6578
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 16
allele frequency: 1.399335315725031e-3
allele num: 11434
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

Other
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South Asian
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European (Non-Finnish)
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

African
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allele count: 1
allele frequency: 9.712509712509713e-5
allele num: 10296
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

South Asian
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allele num: 16388
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

FS
type: SiteQuality
SIO_000300: 5.9e-1

DP
type: SiteQuality
SIO_000300: 2.142882e6

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.19e0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

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

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

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

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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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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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 8.25e1
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: 3
allele frequency: 2.910360884749709e-4
allele num: 10308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Finnish)
type: Population
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
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 2.145184e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.056e0

QD
type: SiteQuality
SIO_000300: 1.315e1

GenotypeQuality
all individuals: 220
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
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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GenotypeQuality
all individuals: 5
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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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.150844e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

FS
type: SiteQuality
SIO_000300: 9.401e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

QD
type: SiteQuality
SIO_000300: 5.69e0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 68
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
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
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
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
allele num: 8648
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.150844e6

FS
type: SiteQuality
SIO_000300: 9.401e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

QD
type: SiteQuality
SIO_000300: 5.69e0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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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
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 56
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GenotypeQuality
all individuals: 1417
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GenotypeQuality
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GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30218
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
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: 16426
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.945e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
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SIO_000300: -1.195e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.311e0

QD
type: SiteQuality
SIO_000300: 1.37e1

MQRankSum
type: SiteQuality
SIO_000300: -7.85e-1

DP
type: SiteQuality
SIO_000300: 2.151712e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

DP
type: SiteQuality
SIO_000300: 2.151868e6

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-2

QD
type: SiteQuality
SIO_000300: 1.229e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

BaseQRankSum
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SIO_000300: 1.51e0

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 9.111000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.325e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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VQSLOD
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QD
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FS
type: SiteQuality
SIO_000300: 1.1281e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.151992e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

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
all individuals: 176
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GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 2364
bin: 8.25e1
variant carriers: 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: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.600554785020804e-4
allele num: 11536
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.074e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

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
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variant carriers: 10

Latino
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allele count: 6
allele frequency: 5.201109570041609e-4
allele num: 11536
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.216397031991242e-4
allele num: 16442
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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QD
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DP
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BaseQRankSum
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SIO_000300: -2.014e0

ReadPosRankSum
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SIO_000300: -7.6e-2

VQSLOD
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SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

South Asian
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allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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MQ
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SIO_000300: 5.975e1

FS
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BaseQRankSum
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SIO_000300: -2.014e0

InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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SIO_000300: 2.152822e6

VQSLOD
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SIO_000300: 1.86e0

QD
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SIO_000300: 1.074e1

ReadPosRankSum
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SIO_000300: -7.6e-2

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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variant carriers: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.001500375093773e-5
allele num: 66650
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

Latino
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allele frequency: 2.600104004160167e-4
allele num: 11538
num of homozygotes: 0

Other
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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
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num of homozygotes: 0

East Asian
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allele count: 0
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QD
type: SiteQuality
SIO_000300: 1.263e1

ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 2.53e-1

MQRankSum
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SIO_000300: 3.67e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 2.15287e6

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
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FS
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MQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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VQSLOD
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SIO_000300: -3.443e-1

GenotypeDepth
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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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South Asian
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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

Other
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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FS
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DP
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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GenotypeDepth
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variant carriers: 2

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 5.998440405494571e-5
allele num: 66684
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

MQRankSum
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SIO_000300: 3.1e-2

BaseQRankSum
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ClippingRankSum
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QD
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DP
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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MQ
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SIO_000300: 5.966e1

VQSLOD
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SIO_000300: 1.89e0

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

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 (Non-Finnish)
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allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

MQ
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SIO_000300: 5.972e1

InbreedingCoeff
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QD
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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DP
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BaseQRankSum
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SIO_000300: -1.46e0

ClippingRankSum
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SIO_000300: -8.39e-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
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bin: 6.25e1
variant carriers: 0

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

Other
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num of homozygotes: 0

Latino
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allele frequency: 8.655011251514626e-5
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

Other
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.738e0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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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 frequency: 3.000930288389401e-5
allele num: 66646
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

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

African
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allele num: 10350
num of homozygotes: 0

South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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Latino
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FS
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 9.75e1
variant carriers: 1

African
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allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

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

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

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

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

South Asian
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allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: -1.6e0

ClippingRankSum
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SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 1.671e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 6.66e0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

DP
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SIO_000300: 2.144639e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: -2.174e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

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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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

Latino
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allele count: 3
allele frequency: 2.608242044861763e-4
allele num: 11502
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.6e-1

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -2.074e0

QD
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SIO_000300: 1.209e1

FS
type: SiteQuality
SIO_000300: 3.309e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-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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bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 3
allele frequency: 3.48594004183128e-4
allele num: 8606
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 6.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.219e0

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.263e1

DP
type: SiteQuality
SIO_000300: 2.142379e6

VQSLOD
type: SiteQuality
SIO_000300: 7.09e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.512635379061372e-5
allele num: 66480
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.940617116242965e-4
allele num: 10306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.373e1

FS
type: SiteQuality
SIO_000300: 1.206e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

DP
type: SiteQuality
SIO_000300: 2.139844e6

GenotypeQuality
all individuals: 314
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 163
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.37e0

QD
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DP
type: SiteQuality
SIO_000300: 2.137549e6

MQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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SIO_000300: 1.19e0

BaseQRankSum
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SIO_000300: -3.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

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

Latino
type: Population
allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.234e0

MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
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InbreedingCoeff
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DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.322e0

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

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

African
type: Population
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allele frequency: 9.72762645914397e-5
allele num: 10280
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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Latino
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allele frequency: 0.0e0
allele num: 11468
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South Asian
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allele num: 16420
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East Asian
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VQSLOD
type: SiteQuality
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.508250128201261e-5
allele num: 66302
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
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Other
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.209e0

FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
type: SiteQuality
SIO_000300: 2.099024e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.919e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11601
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24805
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2288
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3175
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508568670045861e-5
allele num: 66288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
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: 6584
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.574e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.093603e6

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

FS
type: SiteQuality
SIO_000300: 8.856e0

VQSLOD
type: SiteQuality
SIO_000300: -1.099e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.621e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

GenotypeQuality
all individuals: 233
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2398
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23110
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11601
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.953506544246923e-4
allele num: 10238
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.076741e6

FS
type: SiteQuality
SIO_000300: 8.92e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.526e1

GenotypeQuality
all individuals: 1300
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3123
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.75e1
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
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21583
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.102770657878677e-5
allele num: 16386
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.294e-1

FS
type: SiteQuality
SIO_000300: 6.499e0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.58e-1

DP
type: SiteQuality
SIO_000300: 2.065329e6

GenotypeQuality
all individuals: 11627
bin: 9.75e1
variant carriers: 46

GenotypeQuality
all individuals: 2862
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 3065
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variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 16109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1951
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.752541184717841e-4
allele num: 11412
num of homozygotes: 0

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

African
type: Population
allele count: 44
allele frequency: 4.318806438947781e-3
allele num: 10188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

QD
type: SiteQuality
SIO_000300: 1.373e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

DP
type: SiteQuality
SIO_000300: 2.025195e6

GenotypeQuality
all individuals: 3040
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 2287
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3431
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11591
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516024377671993e-5
allele num: 65962
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.224140041620761e-4
allele num: 16338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

DP
type: SiteQuality
SIO_000300: 2.018851e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 3.24e0

QD
type: SiteQuality
SIO_000300: 1.332e1

GenotypeQuality
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3786
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variant carriers: 0

GenotypeQuality
all individuals: 2263
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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
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.790436005625879e-5
allele num: 11376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.688e0

QD
type: SiteQuality
SIO_000300: 1.717e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -5.886e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

DP
type: SiteQuality
SIO_000300: 2.014e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 1093
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
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variant carriers: 0

GenotypeQuality
all individuals: 4894
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variant carriers: 0

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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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
all individuals: 9761
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variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2484
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 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: 1
allele frequency: 1.521421616358325e-5
allele num: 65728
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.708e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.093e0

QD
type: SiteQuality
SIO_000300: 8.91e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.996827e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8009
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variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2548
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4789
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52849107361213e-5
allele num: 65424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.99e-2

DP
type: SiteQuality
SIO_000300: 1.992721e6

QD
type: SiteQuality
SIO_000300: 7.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.652e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2593
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7232
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4532
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4141
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3752
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4255
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620745542949757e-5
allele num: 61700
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15376
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.164222873900293e-5
allele num: 10912
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.505e0

DP
type: SiteQuality
SIO_000300: 1.496512e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 1.335e1

MQRankSum
type: SiteQuality
SIO_000300: 8.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.378e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3626
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.056201550387597e-4
allele num: 8256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15414
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

DP
type: SiteQuality
SIO_000300: 1.511421e6

QD
type: SiteQuality
SIO_000300: 1.168e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

FS
type: SiteQuality
SIO_000300: 5.228e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2306
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4020
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1970
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7225
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1688
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.94149624644059e-4
allele num: 15452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 5.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.185e0

DP
type: SiteQuality
SIO_000300: 1.545711e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.455e0

QD
type: SiteQuality
SIO_000300: 2.619e1