12-120662036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662036
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662036
    reference: chr 12
allele count: 3
allele frequency: 2.689135891000359e-5
allele num: 111560
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.158C>T
  hgvsp: ENSP00000267257.7:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.145C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-242C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.492C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.178C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.158C>T
  hgvsp: ENSP00000228307.7:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-242C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-242C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.161C>T
  hgvsp: ENSP00000443745.1:p.Pro54Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.243C>T
  hgvsp: ENST00000547983.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.158C>T
  hgvsp: ENSP00000391283.2:p.Pro53Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.500C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.247C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.320C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.152C>T
  hgvsp: ENSP00000443887.1:p.Pro51Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-242C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33704
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro53Leu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-120662040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662040
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662040
    reference: chr 12
allele count: 2
allele frequency: 1.760594376661561e-5
allele num: 113598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.488C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.316C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.154C>T
  hgvsp: ENSP00000228307.7:p.Pro52Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.243C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-246C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.154C>T
  hgvsp: ENSP00000267257.7:p.Pro52Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.157C>T
  hgvsp: ENSP00000443745.1:p.Pro53Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.239C>T
  hgvsp: ENSP00000446893.1:p.Thr80Ile
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.154C>T
  hgvsp: ENSP00000391283.2:p.Pro52Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-246C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.496C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.148C>T
  hgvsp: ENSP00000443887.1:p.Pro50Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.141C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.174C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-246C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-246C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12899
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro52Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-120662040-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662040
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662040
    reference: chr 12
allele count: 1
allele frequency: 8.802971883307805e-6
allele num: 113598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.496C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.174C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.154C>A
  hgvsp: ENSP00000228307.7:p.Pro52Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-246C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-246C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.243C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.148C>A
  hgvsp: ENSP00000443887.1:p.Pro50Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-246C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-246C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.239C>A
  hgvsp: ENSP00000446893.1:p.Thr80Asn
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.157C>A
  hgvsp: ENSP00000443745.1:p.Pro53Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.154C>A
  hgvsp: ENSP00000267257.7:p.Pro52Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.488C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.154C>A
  hgvsp: ENSP00000391283.2:p.Pro52Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.141C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.316C>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro52Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-120662042-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662042
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662042
    reference: chr 12
allele count: 1
allele frequency: 8.755954048753153e-6
allele num: 114208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.172C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-248C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.139C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.155C>G
  hgvsp: ENSP00000443745.1:p.Pro52Arg
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.314C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.152C>G
  hgvsp: ENSP00000267257.7:p.Pro51Arg
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.241C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.237C>G
  hgvsp: ENST00000547983.1:c.237C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.486C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-248C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.146C>G
  hgvsp: ENSP00000443887.1:p.Pro49Arg
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.494C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.152C>G
  hgvsp: ENSP00000391283.2:p.Pro51Arg
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.152C>G
  hgvsp: ENSP00000228307.7:p.Pro51Arg
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-248C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-248C>G
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro51Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-120662042-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662042
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662042
    reference: chr 12
allele count: 1
allele frequency: 8.755954048753153e-6
allele num: 114208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.152C>A
  hgvsp: ENSP00000228307.7:p.Pro51Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-248C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.241C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.152C>A
  hgvsp: ENSP00000267257.7:p.Pro51Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.146C>A
  hgvsp: ENSP00000443887.1:p.Pro49Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-248C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.152C>A
  hgvsp: ENSP00000391283.2:p.Pro51Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-248C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-248C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.237C>A
  hgvsp: ENST00000547983.1:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.155C>A
  hgvsp: ENSP00000443745.1:p.Pro52Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.494C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.486C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.139C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.314C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.172C>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro51Gln
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

12-120662046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662046
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662046
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 115576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.233C>T
  hgvsp: ENSP00000446893.1:p.Pro78Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.237C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-252C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.148C>T
  hgvsp: ENSP00000391283.2:p.Pro50Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.135C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.151C>T
  hgvsp: ENSP00000443745.1:p.Pro51Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.148C>T
  hgvsp: ENSP00000228307.7:p.Pro50Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.148C>T
  hgvsp: ENSP00000267257.7:p.Pro50Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-252C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.168C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-252C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.142C>T
  hgvsp: ENSP00000443887.1:p.Pro48Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-252C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.482C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.490C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.310C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro50Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-120662047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662047
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662047
    reference: chr 12
allele count: 1
allele frequency: 8.632596685082874e-6
allele num: 115840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-253C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-253C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.134C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.236C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.481C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-253C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.232C>T
  hgvsp: ENSP00000446893.1:p.Pro78Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.150C>T
  hgvsp: ENST00000543331.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.147C>T
  hgvsp: ENST00000228307.7:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.141C>T
  hgvsp: ENST00000536957.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.147C>T
  hgvsp: ENST00000424649.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.147C>T
  hgvsp: ENST00000267257.7:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.309C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-253C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.489C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.167C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro78Ser
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-120662049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662049
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662049
    reference: chr 12
allele count: 4
allele frequency: 3.446671377117548e-5
allele num: 116054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.479G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.307G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.139G>A
  hgvsp: ENSP00000443887.1:p.Val47Ile
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.487G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.165G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-255G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-255G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.132G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.148G>A
  hgvsp: ENSP00000443745.1:p.Val50Ile
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-255G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.234G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.145G>A
  hgvsp: ENSP00000267257.7:p.Val49Ile
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-255G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.145G>A
  hgvsp: ENSP00000228307.7:p.Val49Ile
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.145G>A
  hgvsp: ENSP00000391283.2:p.Val49Ile
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.230G>A
  hgvsp: ENSP00000446893.1:p.Arg77His
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val49Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-120662049-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662049
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662048
    reference: chr 12
allele count: 1
allele frequency: 8.616678442793871e-6
allele num: 116054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.229delC
  hgvsp: ENSP00000446893.1:p.Arg77ValfsTer?
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.147delC
  hgvsp: ENSP00000443745.1:p.Val50SerfsTer18
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-256delC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.144delC
  hgvsp: ENSP00000267257.7:p.Val49SerfsTer18
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.144delC
  hgvsp: ENSP00000228307.7:p.Val49SerfsTer18
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.233delC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.144delC
  hgvsp: ENSP00000391283.2:p.Val49SerfsTer18
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-256delC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.164delC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.138delC
  hgvsp: ENSP00000443887.1:p.Val47SerfsTer18
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.478delC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-256delC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.306delC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.486delC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-256delC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.131delC
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val49SerfsTer18
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: CG
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

12-120662049-CGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662049
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662046
    reference: chr 12
allele count: 1
allele frequency: 8.616678442793871e-6
allele num: 116054
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 856
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9022
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11116
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8446
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: CGGG
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-120662050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662050
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662050
    reference: chr 12
allele count: 3
allele frequency: 2.566559441516665e-5
allele num: 116888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-256C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.229C>T
  hgvsp: ENSP00000446893.1:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.144C>T
  hgvsp: ENST00000424649.2:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.147C>T
  hgvsp: ENST00000543331.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-256C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-256C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.486C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.478C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.233C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.131C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.144C>T
  hgvsp: ENST00000267257.7:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.144C>T
  hgvsp: ENST00000228307.7:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.138C>T
  hgvsp: ENST00000536957.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-256C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.164C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.306C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg77Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

12-120662055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662055
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662055
    reference: chr 12
allele count: 7
allele frequency: 5.90767153346274e-5
allele num: 118490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-261C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.473C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-261C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.481C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.159C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.142C>T
  hgvsp: ENSP00000443745.1:p.Pro48Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.139C>T
  hgvsp: ENSP00000267257.7:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.301C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.139C>T
  hgvsp: ENSP00000391283.2:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-261C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-261C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.139C>T
  hgvsp: ENSP00000228307.7:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.224C>T
  hgvsp: ENSP00000446893.1:p.Thr75Ile
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.228C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.126C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.133C>T
  hgvsp: ENSP00000443887.1:p.Pro45Ser
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro47Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

12-120662055-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662055
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662055
    reference: chr 12
allele count: 1
allele frequency: 8.439530762089629e-6
allele num: 118490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.228C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.142C>A
  hgvsp: ENSP00000443745.1:p.Pro48Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-261C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-261C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.139C>A
  hgvsp: ENSP00000228307.7:p.Pro47Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.133C>A
  hgvsp: ENSP00000443887.1:p.Pro45Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.159C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.224C>A
  hgvsp: ENSP00000446893.1:p.Thr75Asn
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.139C>A
  hgvsp: ENSP00000267257.7:p.Pro47Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.481C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.139C>A
  hgvsp: ENSP00000391283.2:p.Pro47Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.301C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.473C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.126C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-261C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-261C>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro47Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

12-120662061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662061
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662061
    reference: chr 12
allele count: 1
allele frequency: 8.385884878572387e-6
allele num: 119248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-267G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-267G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.136G>A
  hgvsp: ENSP00000443745.1:p.Val46Met
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-267G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-267G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.218G>A
  hgvsp: ENSP00000446893.1:p.Arg73His
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.120G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.133G>A
  hgvsp: ENSP00000228307.7:p.Val45Met
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.153G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.222G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.475G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.467G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.295G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.127G>A
  hgvsp: ENSP00000443887.1:p.Val43Met
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.133G>A
  hgvsp: ENSP00000391283.2:p.Val45Met
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.133G>A
  hgvsp: ENSP00000267257.7:p.Val45Met
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val45Met
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-120662062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662062
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662062
    reference: chr 12
allele count: 4
allele frequency: 3.351431061063074e-5
allele num: 119352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.132C>T
  hgvsp: ENST00000267257.7:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.132C>T
  hgvsp: ENST00000228307.7:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.132C>T
  hgvsp: ENST00000424649.2:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.217C>T
  hgvsp: ENSP00000446893.1:p.Arg73Cys
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-268C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-268C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.126C>T
  hgvsp: ENST00000536957.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.135C>T
  hgvsp: ENST00000543331.1:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.294C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-268C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-268C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.466C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.152C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.221C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.119C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.474C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg73Cys
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: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

12-120662066-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662066
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662066
    reference: chr 12
allele count: 1
allele frequency: 8.351846593281774e-6
allele num: 119734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-272T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.470T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.128T>C
  hgvsp: ENSP00000228307.7:p.Ile43Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.131T>C
  hgvsp: ENSP00000443745.1:p.Ile44Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-272T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.128T>C
  hgvsp: ENSP00000267257.7:p.Ile43Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.213T>C
  hgvsp: ENST00000547983.1:c.213T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.148T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-272T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.290T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.217T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.462T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.122T>C
  hgvsp: ENSP00000443887.1:p.Ile41Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.128T>C
  hgvsp: ENSP00000391283.2:p.Ile43Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.115T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-272T>C
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile43Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

12-120662070-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662070
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662070
    reference: chr 12
allele count: 2
allele frequency: 1.668808303990121e-5
allele num: 119846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.127G>C
  hgvsp: ENSP00000443745.1:p.Glu43Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.118G>C
  hgvsp: ENSP00000443887.1:p.Glu40Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-276G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.124G>C
  hgvsp: ENSP00000228307.7:p.Glu42Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.209G>C
  hgvsp: ENSP00000446893.1:p.Gly70Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.124G>C
  hgvsp: ENSP00000391283.2:p.Glu42Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.458G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.466G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.286G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.213G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.111G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-276G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.124G>C
  hgvsp: ENSP00000267257.7:p.Glu42Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.144G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-276G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-276G>C
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu42Gln
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-120662076-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662076
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662076
    reference: chr 12
allele count: 1
allele frequency: 8.333194446759221e-6
allele num: 120002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-282T>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.121T>A
  hgvsp: ENSP00000443745.1:p.Tyr41Asn
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-282T>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.118T>A
  hgvsp: ENSP00000267257.7:p.Tyr40Asn
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-282T>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.112T>A
  hgvsp: ENSP00000443887.1:p.Tyr38Asn
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.452T>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.118T>A
  hgvsp: ENSP00000228307.7:p.Tyr40Asn
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.118T>A
  hgvsp: ENSP00000391283.2:p.Tyr40Asn
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.138T>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.460T>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.105T>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.203T>A
  hgvsp: ENSP00000446893.1:p.Ile68Lys
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.280T>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-282T>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.207T>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr40Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

12-120662077-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662077
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662077
    reference: chr 12
allele count: 174
allele frequency: 1.449685901388033e-3
allele num: 120026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.111A>G
  hgvsp: ENST00000536957.1:c.111A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.117A>G
  hgvsp: ENST00000424649.2:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.451A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.120A>G
  hgvsp: ENST00000543331.1:c.120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.104A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-283A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.206A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.117A>G
  hgvsp: ENST00000228307.7:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.459A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.117A>G
  hgvsp: ENST00000267257.7:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-283A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.202A>G
  hgvsp: ENSP00000446893.1:p.Ile68Val
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-283A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.279A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.137A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-283A>G
  variant of: http://identifiers.org/hgnc/9718
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 17219
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: p.Ile68Val
num of homozygotes: 1
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

12-120662078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662078
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662078
    reference: chr 12
allele count: 1
allele frequency: 8.330556481172942e-6
allele num: 120040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.205C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-284C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.119C>T
  hgvsp: ENSP00000443745.1:p.Thr40Ile
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.201C>T
  hgvsp: ENST00000547983.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.450C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.116C>T
  hgvsp: ENSP00000391283.2:p.Thr39Ile
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.136C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.116C>T
  hgvsp: ENSP00000267257.7:p.Thr39Ile
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.116C>T
  hgvsp: ENSP00000228307.7:p.Thr39Ile
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-284C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-284C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.278C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.110C>T
  hgvsp: ENSP00000443887.1:p.Thr37Ile
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-284C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.103C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.458C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr39Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-120662078-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662078
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662078
    reference: chr 12
allele count: 1
allele frequency: 8.330556481172942e-6
allele num: 120040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.201C>A
  hgvsp: ENSP00000446893.1:p.His67Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.450C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.458C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-284C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.110C>A
  hgvsp: ENSP00000443887.1:p.Thr37Lys
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.278C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.205C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.116C>A
  hgvsp: ENSP00000228307.7:p.Thr39Lys
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-284C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-284C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.116C>A
  hgvsp: ENSP00000267257.7:p.Thr39Lys
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.136C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.119C>A
  hgvsp: ENSP00000443745.1:p.Thr40Lys
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.103C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-284C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.116C>A
  hgvsp: ENSP00000391283.2:p.Thr39Lys
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr39Lys
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-120662094-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662094
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662094
    reference: chr 12
allele count: 2
allele frequency: 1.663893510815308e-5
allele num: 120200
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.100C>G
  hgvsp: ENSP00000267257.7:p.Pro34Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-300C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.434C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-300C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.120C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.100C>G
  hgvsp: ENSP00000228307.7:p.Pro34Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.87C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-300C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.185C>G
  hgvsp: ENSP00000446893.1:p.Pro62Arg
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-300C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.262C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.94C>G
  hgvsp: ENSP00000443887.1:p.Pro32Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.103C>G
  hgvsp: ENSP00000443745.1:p.Pro35Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.100C>G
  hgvsp: ENSP00000391283.2:p.Pro34Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.189C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.442C>G
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro34Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

12-120662095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662095
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662095
    reference: chr 12
allele count: 30
allele frequency: 2.495591122350514e-4
allele num: 120212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.261C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.99C>T
  hgvsp: ENST00000228307.7:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-301C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.99C>T
  hgvsp: ENST00000424649.2:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.99C>T
  hgvsp: ENST00000267257.7:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.184C>T
  hgvsp: ENSP00000446893.1:p.Pro62Ser
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.93C>T
  hgvsp: ENST00000536957.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-301C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.102C>T
  hgvsp: ENST00000543331.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.441C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-301C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.86C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.433C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.119C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.188C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-301C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro62Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-120662108-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662108
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662108
    reference: chr 12
allele count: 1
allele frequency: 8.313519445321983e-6
allele num: 120286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.89C>A
  hgvsp: ENSP00000443745.1:p.Thr30Asn
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-314C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.420C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-314C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.86C>A
  hgvsp: ENSP00000228307.7:p.Thr29Asn
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.86C>A
  hgvsp: ENSP00000267257.7:p.Thr29Asn
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.171C>A
  hgvsp: ENSP00000446893.1:p.Asp57Glu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-314C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.175C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.86C>A
  hgvsp: ENSP00000391283.2:p.Thr29Asn
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.106C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.428C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.248C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-314C>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.80C>A
  hgvsp: ENSP00000443887.1:p.Thr27Asn
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.73C>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr29Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

12-120662116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662116
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662116
    reference: chr 12
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.81G>A
  hgvsp: ENST00000543331.1:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.420G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.78G>A
  hgvsp: ENST00000424649.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.163G>A
  hgvsp: ENSP00000446893.1:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.78G>A
  hgvsp: ENST00000228307.7:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-322G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.167G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.78G>A
  hgvsp: ENST00000267257.7:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.65G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.72G>A
  hgvsp: ENST00000536957.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-322G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-322G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.240G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.98G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-322G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.412G>A
  variant of: http://identifiers.org/hgnc/9718
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly55Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-120662117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662117
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662117
    reference: chr 12
allele count: 8
allele frequency: 6.650152122229795e-5
allele num: 120298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.80C>T
  hgvsp: ENSP00000443745.1:p.Ser27Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-323C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.239C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.71C>T
  hgvsp: ENSP00000443887.1:p.Ser24Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.77C>T
  hgvsp: ENSP00000391283.2:p.Ser26Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.166C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-323C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.77C>T
  hgvsp: ENSP00000228307.7:p.Ser26Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-323C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.419C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.162C>T
  hgvsp: ENST00000547983.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.64C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.97C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.77C>T
  hgvsp: ENSP00000267257.7:p.Ser26Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.411C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-323C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser26Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-120662126-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662126
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662126
    reference: chr 12
allele count: 1
allele frequency: 8.311584686736373e-6
allele num: 120314
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.68T>C
  hgvsp: ENSP00000267257.7:p.Val23Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.62T>C
  hgvsp: ENSP00000443887.1:p.Val21Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.153T>C
  hgvsp: ENST00000547983.1:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.230T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-332T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.402T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.71T>C
  hgvsp: ENSP00000443745.1:p.Val24Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.157T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.88T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.68T>C
  hgvsp: ENSP00000391283.2:p.Val23Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.68T>C
  hgvsp: ENSP00000228307.7:p.Val23Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-332T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-332T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-332T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.55T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.410T>C
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val23Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

12-120662127-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662127
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662127
    reference: chr 12
allele count: 16
allele frequency: 1.32980933858608e-4
allele num: 120318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.87G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.152G>A
  hgvsp: ENSP00000446893.1:p.Cys51Tyr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-333G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.67G>A
  hgvsp: ENSP00000391283.2:p.Val23Met
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.67G>A
  hgvsp: ENSP00000228307.7:p.Val23Met
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.409G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.70G>A
  hgvsp: ENSP00000443745.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.67G>A
  hgvsp: ENSP00000267257.7:p.Val23Met
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.401G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.61G>A
  hgvsp: ENSP00000443887.1:p.Val21Met
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.156G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-333G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.229G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-333G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-333G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.54G>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val23Met
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

12-120662129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662129
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662129
    reference: chr 12
allele count: 13
allele frequency: 1.080595823912754e-4
allele num: 120304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.85C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.65C>T
  hgvsp: ENSP00000267257.7:p.Pro22Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.154C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.65C>T
  hgvsp: ENSP00000228307.7:p.Pro22Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-335C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.227C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.150C>T
  hgvsp: ENST00000547983.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.407C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-335C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.65C>T
  hgvsp: ENSP00000391283.2:p.Pro22Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-335C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-335C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.59C>T
  hgvsp: ENSP00000443887.1:p.Pro20Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.68C>T
  hgvsp: ENSP00000443745.1:p.Pro23Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.399C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.52C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17647
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro22Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-120662130-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662130
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662130
    reference: chr 12
allele count: 3
allele frequency: 2.493931433511788e-5
allele num: 120292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.67C>G
  hgvsp: ENSP00000443745.1:p.Pro23Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.153C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.406C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.149C>G
  hgvsp: ENSP00000446893.1:p.Ala50Gly
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.84C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-336C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-336C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.64C>G
  hgvsp: ENSP00000267257.7:p.Pro22Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.64C>G
  hgvsp: ENSP00000228307.7:p.Pro22Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.64C>G
  hgvsp: ENSP00000391283.2:p.Pro22Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.226C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-336C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.58C>G
  hgvsp: ENSP00000443887.1:p.Pro20Ala
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.51C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-336C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.398C>G
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro22Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

12-120662131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662131
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662131
    reference: chr 12
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.397G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-337G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.225G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.50G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.63G>A
  hgvsp: ENST00000228307.7:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.63G>A
  hgvsp: ENST00000267257.7:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.148G>A
  hgvsp: ENSP00000446893.1:p.Ala50Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.66G>A
  hgvsp: ENST00000543331.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-337G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.57G>A
  hgvsp: ENST00000536957.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.63G>A
  hgvsp: ENST00000424649.2:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-337G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.405G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.83G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-337G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.152G>A
  variant of: http://identifiers.org/hgnc/9718
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala50Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-120662132-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662132
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662132
    reference: chr 12
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.56G>T
  hgvsp: ENSP00000443887.1:p.Arg19Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.147G>T
  hgvsp: ENST00000547983.1:c.147G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-338G>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.62G>T
  hgvsp: ENSP00000391283.2:p.Arg21Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-338G>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.151G>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.404G>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.62G>T
  hgvsp: ENSP00000267257.7:p.Arg21Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.62G>T
  hgvsp: ENSP00000228307.7:p.Arg21Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.65G>T
  hgvsp: ENSP00000443745.1:p.Arg22Leu
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-338G>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.396G>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-338G>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.49G>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.224G>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.82G>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg21Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-120662132-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662132
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662132
    reference: chr 12
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.62G>A
  hgvsp: ENSP00000228307.7:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.147G>A
  hgvsp: ENST00000547983.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.56G>A
  hgvsp: ENSP00000443887.1:p.Arg19Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.404G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-338G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.396G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.49G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.65G>A
  hgvsp: ENSP00000443745.1:p.Arg22Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.82G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.62G>A
  hgvsp: ENSP00000391283.2:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-338G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.62G>A
  hgvsp: ENSP00000267257.7:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-338G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-338G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.151G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.224G>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg21Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

12-120662133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662133
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662133
    reference: chr 12
allele count: 7
allele frequency: 5.820044232336166e-5
allele num: 120274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.48C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.61C>T
  hgvsp: ENSP00000267257.7:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.146C>T
  hgvsp: ENSP00000446893.1:p.Thr49Met
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.403C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-339C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.64C>T
  hgvsp: ENSP00000443745.1:p.Arg22Trp
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-339C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-339C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.61C>T
  hgvsp: ENSP00000391283.2:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.61C>T
  hgvsp: ENSP00000228307.7:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.150C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-339C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.55C>T
  hgvsp: ENSP00000443887.1:p.Arg19Trp
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.395C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.223C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.81C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg21Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-120662143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662143
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662143
    reference: chr 12
allele count: 1
allele frequency: 8.318775476249896e-6
allele num: 120210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-349C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.54C>T
  hgvsp: ENST00000543331.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.136C>T
  hgvsp: ENSP00000446893.1:p.His46Tyr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.71C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-349C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.45C>T
  hgvsp: ENST00000536957.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.51C>T
  hgvsp: ENST00000424649.2:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.140C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.51C>T
  hgvsp: ENST00000228307.7:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.213C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.51C>T
  hgvsp: ENST00000267257.7:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.385C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-349C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.393C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-349C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His46Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

12-120662144-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662144
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662144
    reference: chr 12
allele count: 1
allele frequency: 8.318221896887321e-6
allele num: 120218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.53A>G
  hgvsp: ENSP00000443745.1:p.His18Arg
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.44A>G
  hgvsp: ENSP00000443887.1:p.His15Arg
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.50A>G
  hgvsp: ENSP00000228307.7:p.His17Arg
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.50A>G
  hgvsp: ENSP00000267257.7:p.His17Arg
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-350A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.384A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-350A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.50A>G
  hgvsp: ENSP00000391283.2:p.His17Arg
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.135A>G
  hgvsp: ENST00000547983.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.70A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.212A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.392A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-350A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.139A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-350A>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.37A>G
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His17Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-120662155-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662155
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662155
    reference: chr 12
allele count: 1
allele frequency: 8.325562808045825e-6
allele num: 120112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.59T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-361T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-361T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.33T>C
  hgvsp: ENST00000536957.1:c.33T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.124T>C
  hgvsp: ENSP00000446893.1:p.Tyr42His
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.42T>C
  hgvsp: ENST00000543331.1:c.42T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-361T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.373T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.39T>C
  hgvsp: ENST00000228307.7:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.39T>C
  hgvsp: ENST00000424649.2:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.381T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.201T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.128T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-361T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.39T>C
  hgvsp: ENST00000267257.7:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.26T>C
  variant of: http://identifiers.org/hgnc/9718
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr42His
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

12-120662167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662167
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662167
    reference: chr 12
allele count: 12
allele frequency: 1.000583673809722e-4
allele num: 119930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.369G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-373G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.112G>A
  hgvsp: ENSP00000446893.1:p.Gly38Arg
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-373G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.47G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.27G>A
  hgvsp: ENST00000228307.7:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.27G>A
  hgvsp: ENST00000424649.2:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-373G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-373G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.21G>A
  hgvsp: ENST00000536957.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.27G>A
  hgvsp: ENST00000267257.7:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.30G>A
  hgvsp: ENST00000543331.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.116G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.14G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.361G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.189G>A
  variant of: http://identifiers.org/hgnc/9718
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36138
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly38Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-120662168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662168
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662168
    reference: chr 12
allele count: 4
allele frequency: 3.337282450900232e-5
allele num: 119858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.46C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.111C>T
  hgvsp: ENST00000547983.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-374C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.29C>T
  hgvsp: ENSP00000443745.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.26C>T
  hgvsp: ENSP00000267257.7:p.Ala9Val
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-374C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.20C>T
  hgvsp: ENSP00000443887.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.360C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-374C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.26C>T
  hgvsp: ENSP00000228307.7:p.Ala9Val
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-374C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.368C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.26C>T
  hgvsp: ENSP00000391283.2:p.Ala9Val
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.13C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.115C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.188C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala9Val
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-120662178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662178
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662178
    reference: chr 12
allele count: 1
allele frequency: 8.354079296920687e-6
allele num: 119702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.101G>A
  hgvsp: ENSP00000446893.1:p.Arg34His
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.16G>A
  hgvsp: ENSP00000228307.7:p.Ala6Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.358G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.10G>A
  hgvsp: ENSP00000443887.1:p.Ala4Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-384G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.36G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-384G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.16G>A
  hgvsp: ENSP00000391283.2:p.Ala6Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.16G>A
  hgvsp: ENSP00000267257.7:p.Ala6Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-384G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.19G>A
  hgvsp: ENSP00000443745.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.178G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.3G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.105G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.350G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-384G>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala6Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-120662179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662179
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662179
    reference: chr 12
allele count: 6
allele frequency: 5.013368983957219e-5
allele num: 119680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-385C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.15C>T
  hgvsp: ENST00000228307.7:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.349C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000538144
  gene symbol: PXN
  hgvsc: ENST00000538144.1:n.2C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.357C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.35C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.9C>T
  hgvsp: ENST00000536957.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.18C>T
  hgvsp: ENST00000543331.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.15C>T
  hgvsp: ENST00000424649.2:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.104C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-385C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-385C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-385C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.100C>T
  hgvsp: ENSP00000446893.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.177C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.15C>T
  hgvsp: ENST00000267257.7:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9718
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg34Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-120662187-AGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662187
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662184
    reference: chr 12
allele count: 2
allele frequency: 1.67464916100077e-5
allele num: 119428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-10_-386-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-10_99-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-10_103-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-10_-386-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-10_-386-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-10_34-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-10_-386-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-10_8-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-10_14-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-10_17-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-10_176-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-10_348-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-10_356-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-10_14-8delCTC
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-10_14-8delCTC
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.14-10_14-8delCTC
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: AGAG
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-120662195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662195
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662195
    reference: chr 12
allele count: 1
allele frequency: 8.40180806909647e-6
allele num: 119022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-15G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-15G>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-120662196-A-ACGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662196
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662199
    reference: chr 12
allele count: 1
allele frequency: 8.40223163272165e-6
allele num: 119016
alternate allele: ACGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-19_-386-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-19_-386-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-19_8-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-19_103-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-19_356-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-19_34-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-19_17-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-19_-386-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-19_-386-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-19_176-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-19_348-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-19_99-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-19_14-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-19_14-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-19_14-17dupCCG
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-120662197-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662197
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662197
    reference: chr 12
allele count: 12
allele frequency: 1.008895091725379e-4
allele num: 118942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-17G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-17G>C
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

12-120662197-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662197
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662197
    reference: chr 12
allele count: 28
allele frequency: 2.354088547359217e-4
allele num: 118942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-17G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-17G>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-120662198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662198
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662198
    reference: chr 12
allele count: 2
allele frequency: 1.682085786375105e-5
allele num: 118900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-18C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-18C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

12-120662198-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662198
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662198
    reference: chr 12
allele count: 1
allele frequency: 8.410428931875526e-6
allele num: 118900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-18C>G
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-18C>G
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-120662203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662203
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662203
    reference: chr 12
allele count: 1
allele frequency: 8.427013634908062e-6
allele num: 118666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-23C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-23C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

12-120662204-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662204
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662204
    reference: chr 12
allele count: 1
allele frequency: 8.438960995122281e-6
allele num: 118498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-24G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-24G>C
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-120662205-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662205
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662205
    reference: chr 12
allele count: 1
allele frequency: 8.438676140487081e-6
allele num: 118502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-25T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-25T>C
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-120662206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662206
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662206
    reference: chr 12
allele count: 1
allele frequency: 8.453228287883143e-6
allele num: 118298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-26C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-26C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

12-120662209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662209
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662209
    reference: chr 12
allele count: 11
allele frequency: 9.308150555104252e-5
allele num: 118176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-29C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-29C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34521
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

12-120662212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662212
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662212
    reference: chr 12
allele count: 1
allele frequency: 8.473570932262274e-6
allele num: 118014
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-32T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-32T>C
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-120662215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662215
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662215
    reference: chr 12
allele count: 4
allele frequency: 3.398239711829273e-5
allele num: 117708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-35G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-35G>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-120662216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662216
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662216
    reference: chr 12
allele count: 49
allele frequency: 4.172272270567599e-4
allele num: 117442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-36C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-36C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16521
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 33889
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-120662218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662218
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662218
    reference: chr 12
allele count: 1
allele frequency: 8.512376996152406e-6
allele num: 117476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-38C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-38C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

12-120662231-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662231
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662231
    reference: chr 12
allele count: 1
allele frequency: 8.616975441619991e-6
allele num: 116050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-51G>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-51G>C
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

12-120662235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662235
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662235
    reference: chr 12
allele count: 5606
allele frequency: 4.868178818298656e-2
allele num: 115156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-55G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-55G>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 3.25e1
  variant carriers: 826
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 740
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 311
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 15116
  bin: 2.75e1
  variant carriers: 666
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 1.75e1
  variant carriers: 269
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 423
genotype quality: GenotypeQuality
num of homozygotes: 190
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-120662236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662236
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662236
    reference: chr 12
allele count: 6
allele frequency: 5.226936144263438e-5
allele num: 114790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-56C>T
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-56C>T
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16908
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-120662258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662258
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662258
    reference: chr 12
allele count: 4
allele frequency: 3.631279844581223e-5
allele num: 110154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-78G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-78G>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-120662260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662260
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662260
    reference: chr 12
allele count: 1
allele frequency: 9.105809506465124e-6
allele num: 109820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-80G>A
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-80G>A
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26287
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP

12-120662265-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662265
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662265
    reference: chr 12
allele count: 1
allele frequency: 9.189993934604003e-6
allele num: 108814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-85T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-85T>C
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-120662267-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120662267
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 120662267
    reference: chr 12
allele count: 1
allele frequency: 9.220669051746395e-6
allele num: 108452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000228307
  ensembl transcript: ENST00000228307
  gene symbol: PXN
  hgvsc: ENST00000228307.7:c.14-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000391283
  ensembl transcript: ENST00000424649
  gene symbol: PXN
  hgvsc: ENST00000424649.2:c.14-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000547746
  gene symbol: PXN
  hgvsc: ENST00000547746.1:n.356-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000440827
  gene symbol: PXN
  hgvsc: ENST00000440827.3:n.176-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446893
  ensembl transcript: ENST00000547983
  gene symbol: PXN
  hgvsc: ENST00000547983.1:c.99-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000323871
  gene symbol: PXN
  hgvsc: ENST00000323871.5:n.103-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000267257
  ensembl transcript: ENST00000267257
  gene symbol: PXN
  hgvsc: ENST00000267257.7:c.14-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443745
  ensembl transcript: ENST00000543331
  gene symbol: PXN
  hgvsc: ENST00000543331.1:c.17-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446607
  ensembl transcript: ENST00000548912
  gene symbol: PXN
  hgvsc: ENST00000548912.1:c.-386-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000540221
  gene symbol: PXN
  hgvsc: ENST00000540221.1:n.348-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl transcript: ENST00000551327
  gene symbol: PXN
  hgvsc: ENST00000551327.1:n.34-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000395536
  ensembl transcript: ENST00000458477
  gene symbol: PXN
  hgvsc: ENST00000458477.2:c.-386-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000446650
  ensembl transcript: ENST00000552550
  gene symbol: PXN
  hgvsc: ENST00000552550.1:c.-386-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000443887
  ensembl transcript: ENST00000536957
  gene symbol: PXN
  hgvsc: ENST00000536957.1:c.8-87T>C
  variant of: http://identifiers.org/hgnc/9718
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089159
  ensembl protein: ENSP00000447180
  ensembl transcript: ENST00000546532
  gene symbol: PXN
  hgvsc: ENST00000546532.1:c.-386-87T>C
  variant of: http://identifiers.org/hgnc/9718
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1560
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4158
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5784
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.845220030349014e-4
allele num: 10544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.194e1

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.349744e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.702e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

GenotypeDepth
all individuals: 34832
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1249
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4940
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 41615
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.409058058299205e-4
allele num: 8302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.041e0

QD
type: SiteQuality
SIO_000300: 1.46e1

FS
type: SiteQuality
SIO_000300: 1.829e0

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.374164e6

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 805
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3343
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.585841606140379e-5
allele num: 63058
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.57773500362879e-5
allele num: 63382
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 0.0e0
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East Asian
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Other
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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SIO_000300: 1.390534e6

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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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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African
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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VQSLOD
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FS
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DP
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InbreedingCoeff
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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DP
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Other
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Latino
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European (Finnish)
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East Asian
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South Asian
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.426036e6

GenotypeDepth
all individuals: 528
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1650
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 854
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3850
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 463
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43620
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1307
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556565593674117e-5
allele num: 64244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 6.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

DP
type: SiteQuality
SIO_000300: 1.426036e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556565593674117e-5
allele num: 64244
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.09e-1

DP
type: SiteQuality
SIO_000300: 1.426036e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.54e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeDepth
all individuals: 110
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 651
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1678
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35254
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3875
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15658
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45003
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5369
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.901548869503294e-5
allele num: 11234
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.364066193853428e-4
allele num: 8460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64662
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.436262e6

VQSLOD
type: SiteQuality
SIO_000300: 8.22e-1

QD
type: SiteQuality
SIO_000300: 1.456e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 1.239e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

GenotypeDepth
all individuals: 112
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3859
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 404
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1074
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 36286
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5631
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46850
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.271939460515074e-4
allele num: 16386
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.116e1

FS
type: SiteQuality
SIO_000300: 1.384e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.863e0

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 1.450769e6

GenotypeDepth
all individuals: 105
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36286
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 19
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variant carriers: 0

GenotypeDepth
all individuals: 802
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeDepth
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5631
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46850
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527183872938302e-5
allele num: 65480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.863e0

QD
type: SiteQuality
SIO_000300: 1.116e1

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 1.384e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.450769e6

GenotypeDepth
all individuals: 157
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36546
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variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeDepth
all individuals: 3902
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
all individuals: 458
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GenotypeDepth
all individuals: 509
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variant carriers: 0

GenotypeDepth
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 855
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variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 47595
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variant carriers: 0

GenotypeQuality
all individuals: 679
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variant carriers: 0

GenotypeQuality
all individuals: 357
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5744
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
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variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 3.601e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

DP
type: SiteQuality
SIO_000300: 1.464211e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

GenotypeDepth
all individuals: 16843
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 36573
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 471
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 810
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeDepth
all individuals: 28
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
all individuals: 449
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 1424
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variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5761
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variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
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variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 294
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variant carriers: 0

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

GenotypeQuality
all individuals: 695
bin: 8.25e1
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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bin: 1.25e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.068329388919231e-5
allele num: 65916
num of homozygotes: 0

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

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

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

MQRankSum
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SIO_000300: 5.55e-1

BaseQRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 1.0e-3

QD
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ReadPosRankSum
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SIO_000300: 6.79e-1

VQSLOD
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SIO_000300: 8.05e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 1.46e-1

FS
type: SiteQuality
SIO_000300: 6.045e0

DP
type: SiteQuality
SIO_000300: 1.465869e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 1.033484911120298e-4
allele num: 9676
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66086
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.785e0

QD
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DP
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MQ
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MQRankSum
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SIO_000300: -1.163e0

BaseQRankSum
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SIO_000300: 1.72e0

ClippingRankSum
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SIO_000300: -1.208e0

InbreedingCoeff
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SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023614428688054e-5
allele num: 66146
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 6.191e0

MQRankSum
type: SiteQuality
SIO_000300: -8.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.19e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

DP
type: SiteQuality
SIO_000300: 1.472945e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.47528e6

ReadPosRankSum
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SIO_000300: -1.157e0

ClippingRankSum
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SIO_000300: 1.27e0

MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 6.42e0

MQRankSum
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SIO_000300: 6.8e-1

FS
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SIO_000300: 2.323e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
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SIO_000300: -1.532e0

GenotypeDepth
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variant carriers: 3

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

African
type: Population
allele count: 159
allele frequency: 1.636139123276394e-2
allele num: 9718
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Other
type: Population
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 5.205622071837585e-4
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 1.358449556239812e-4
allele num: 66252
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

InbreedingCoeff
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SIO_000300: 3.4e-3

FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11532
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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South Asian
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African
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allele frequency: 1.029018316526034e-4
allele num: 9718
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Other
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BaseQRankSum
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SIO_000300: -2.698e0

VQSLOD
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QD
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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QD
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FS
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DP
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InbreedingCoeff
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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QD
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FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
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allele num: 66360
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South Asian
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African
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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

Latino
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allele frequency: 2.596952908587258e-4
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Other
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ClippingRankSum
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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QD
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FS
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InbreedingCoeff
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ReadPosRankSum
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DP
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SIO_000300: 1.479975e6

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

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

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

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

European (Non-Finnish)
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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: 8594
num of homozygotes: 0

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

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

MQRankSum
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SIO_000300: -9.340000000000001e-1

DP
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SIO_000300: 1.480905e6

FS
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SIO_000300: 4.366e0

ReadPosRankSum
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SIO_000300: -1.316e0

QD
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SIO_000300: 1.231e1

VQSLOD
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BaseQRankSum
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SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 16

GenotypeQuality
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GenotypeQuality
all individuals: 25
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variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.074400491904078e-4
allele num: 9758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.807120053008855e-4
allele num: 66404
num of homozygotes: 0

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

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

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

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

BaseQRankSum
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SIO_000300: -3.034e0

ReadPosRankSum
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SIO_000300: -7.8e-2

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
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SIO_000300: 2.45e-1

VQSLOD
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SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
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SIO_000300: 1.481534e6

InbreedingCoeff
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SIO_000300: 1.9e-3

QD
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SIO_000300: 1.061e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
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: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.511e0

QD
type: SiteQuality
SIO_000300: 1.243e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 1.754e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

ReadPosRankSum
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SIO_000300: 5.91e-1

DP
type: SiteQuality
SIO_000300: 1.481333e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.492433061699651e-4
allele num: 8590
num of homozygotes: 0

FS
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SIO_000300: 2.253e0

InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

BaseQRankSum
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DP
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SIO_000300: 1.480833e6

ReadPosRankSum
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SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

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

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

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

Other
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allele count: 1
allele frequency: 1.121076233183856e-3
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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SIO_000300: 1.65e0

FS
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SIO_000300: 2.074e0

InbreedingCoeff
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SIO_000300: 3.3e-3

QD
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BaseQRankSum
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SIO_000300: 8.149999999999999e-1

ReadPosRankSum
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SIO_000300: -1.93e-1

DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.50652324565368e-5
allele num: 66378
num of homozygotes: 0

Other
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ReadPosRankSum
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SIO_000300: -1.93e-1

FS
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 4

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

African
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allele frequency: 0.0e0
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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allele num: 66378
num of homozygotes: 0

Latino
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MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

DP
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BaseQRankSum
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SIO_000300: -1.338e0

VQSLOD
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FS
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SIO_000300: 1.771e0

InbreedingCoeff
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SIO_000300: 4.6e-3

MQ
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SIO_000300: 5.959e1

QD
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SIO_000300: 1.258e1

ClippingRankSum
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SIO_000300: 2.07e-1

ReadPosRankSum
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SIO_000300: 1.91e-1

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

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.073312363900314e-5
allele num: 66128
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
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allele count: 4
allele frequency: 4.11946446961895e-4
allele num: 9710
num of homozygotes: 0

VQSLOD
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SIO_000300: 5.3e0

FS
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
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SIO_000300: 2.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

InbreedingCoeff
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SIO_000300: 5.3e-3

DP
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SIO_000300: 1.475774e6

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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

South Asian
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allele count: 3
allele frequency: 1.818622696411251e-4
allele num: 16496
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513179796023364e-5
allele num: 66086
num of homozygotes: 0

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

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

InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 6.2e-2

ClippingRankSum
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SIO_000300: -1.24e-1

QD
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DP
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SIO_000300: 1.474778e6

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515518913676043e-5
allele num: 65984
num of homozygotes: 0

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

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 888
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.969e0

InbreedingCoeff
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SIO_000300: 1.8e-3

ClippingRankSum
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SIO_000300: -2.21e-1

MQ
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SIO_000300: 5.959e1

BaseQRankSum
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SIO_000300: 2.6e-1

MQRankSum
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SIO_000300: 6.919999999999999e-1

DP
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SIO_000300: 1.471682e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.063545961678389e-5
allele num: 65968
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.037759348704396e-5
allele num: 65838
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

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

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

MQ
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SIO_000300: 5.585e1

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.524483200195134e-5
allele num: 65596
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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Other
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East Asian
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European (Finnish)
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Latino
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African
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MQ
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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allele frequency: 1.155219491703424e-3
allele num: 9522
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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Other
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South Asian
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VQSLOD
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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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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num of homozygotes: 0

East Asian
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allele num: 8496
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European (Finnish)
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allele count: 13
allele frequency: 1.986552567237164e-3
allele num: 6544
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.678313142717647e-4
allele num: 65542
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African
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allele frequency: 3.15059861373661e-4
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FS
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele num: 65514
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African
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South Asian
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East Asian
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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Other
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQ
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FS
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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Other
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QD
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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FS
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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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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.183151916706105e-4
allele num: 8452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65308
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.449135e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

GenotypeDepth
all individuals: 439
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 14
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 1

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 3.25e1
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GenotypeQuality
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bin: 3.75e1
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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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bin: 1.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65306
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.744316194473592e-5
allele num: 11436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

QD
type: SiteQuality
SIO_000300: 1.471e1

DP
type: SiteQuality
SIO_000300: 1.448747e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.326e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 41
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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: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9386
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533554165133113e-5
allele num: 65208
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

FS
type: SiteQuality
SIO_000300: 3.584e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.049e0

DP
type: SiteQuality
SIO_000300: 1.444168e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

GenotypeDepth
all individuals: 782
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 116
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variant carriers: 1

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 760
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variant carriers: 1

GenotypeDepth
all individuals: 14
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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
all individuals: 402
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 339
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GenotypeQuality
all individuals: 1303
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.534966537729478e-4
allele num: 65148
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

DP
type: SiteQuality
SIO_000300: 1.442023e6

FS
type: SiteQuality
SIO_000300: 2.539e0

QD
type: SiteQuality
SIO_000300: 1.207e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.531e0

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeDepth
all individuals: 29
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 116
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variant carriers: 1

GenotypeDepth
all individuals: 17
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variant carriers: 0

GenotypeDepth
all individuals: 19
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 3
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GenotypeDepth
all individuals: 5
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GenotypeQuality
all individuals: 2335
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GenotypeQuality
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GenotypeQuality
all individuals: 33
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GenotypeQuality
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GenotypeQuality
all individuals: 5382
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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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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536900992838042e-5
allele num: 65066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

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: 9338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.784e1

FS
type: SiteQuality
SIO_000300: 3.188e0

VQSLOD
type: SiteQuality
SIO_000300: -2.277e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

DP
type: SiteQuality
SIO_000300: 1.438317e6

GenotypeDepth
all individuals: 758
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 901
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3758
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variant carriers: 1

GenotypeDepth
all individuals: 233
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variant carriers: 0

GenotypeDepth
all individuals: 17
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GenotypeDepth
all individuals: 445
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GenotypeDepth
all individuals: 16631
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GenotypeDepth
all individuals: 5
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GenotypeQuality
all individuals: 338
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.767580452920143e-4
allele num: 8390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64880
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.892e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

BaseQRankSum
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SIO_000300: 1.66e-1

FS
type: SiteQuality
SIO_000300: 2.662e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.165e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 509
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 6.797886475295862e-4
allele num: 64726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.220852154804053e-4
allele num: 16382
num of homozygotes: 0

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

European (Finnish)
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allele count: 3
allele frequency: 4.632489190858555e-4
allele num: 6476
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

DP
type: SiteQuality
SIO_000300: 1.430728e6

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

QD
type: SiteQuality
SIO_000300: 1.36e1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54435384235236e-5
allele num: 64752
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

BaseQRankSum
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SIO_000300: -1.45e0

MQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

ReadPosRankSum
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SIO_000300: -7.88e-1

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 9.99e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e-1

DP
type: SiteQuality
SIO_000300: 1.42897e6

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563526063979486e-5
allele num: 63958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.404198e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.04e-1

FS
type: SiteQuality
SIO_000300: 2.052e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

GenotypeDepth
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variant carriers: 148

GenotypeDepth
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variant carriers: 75

GenotypeDepth
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variant carriers: 619

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 119

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: 5292

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

South Asian
type: Population
allele count: 958
allele frequency: 5.895384615384616e-2
allele num: 16250
num of homozygotes: 37

African
type: Population
allele count: 93
allele frequency: 1.05061003163127e-2
allele num: 8852
num of homozygotes: 1

Latino
type: Population
allele count: 262
allele frequency: 2.350619056163646e-2
allele num: 11146
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 685
allele frequency: 1.075690954773869e-1
allele num: 6368
num of homozygotes: 36

Other
type: Population
allele count: 53
allele frequency: 6.235294117647059e-2
allele num: 850
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 3555
allele frequency: 5.601953986763315e-2
allele num: 63460
num of homozygotes: 113

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.82e0

DP
type: SiteQuality
SIO_000300: 1.477739e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.85e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.909890527115104e-5
allele num: 63212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.213886865744113e-4
allele num: 8238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
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DP
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VQSLOD
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SIO_000300: 4.8e-2

ReadPosRankSum
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SIO_000300: 1.25e0

BaseQRankSum
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SIO_000300: -7.37e-1

QD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15854
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.598264656395368e-5
allele num: 60622
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10706
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.59e0

FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: 5.07e-1

MQRankSum
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DP
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60436
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.223690651003426e-4
allele num: 8172
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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VQSLOD
type: SiteQuality
SIO_000300: -9.912e-1

MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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SIO_000300: 6.16e0

BaseQRankSum
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SIO_000300: -1.211e0

FS
type: SiteQuality
SIO_000300: 2.328e0

DP
type: SiteQuality
SIO_000300: 1.277763e6

GenotypeDepth
all individuals: 624
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2607
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 425
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3712
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10794
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32794
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.66939334245935e-5
allele num: 59902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.176e0

VQSLOD
type: SiteQuality
SIO_000300: -1.718e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.447e0

MQRankSum
type: SiteQuality
SIO_000300: -2.431e0

QD
type: SiteQuality
SIO_000300: 1.071e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.240795e6

GenotypeDepth
all individuals: 202
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2864
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4897
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2575
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 166
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3682
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31636
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.674256630056255e-5
allele num: 59728
num of homozygotes: 0