1-233122118-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122118
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122118
    reference: chr 1
allele count: 1
allele frequency: 1.56710336613803e-5
allele num: 63812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1299T>C
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5960T>C
  hgvsp: ENSP00000258229.8:p.Leu1987Ser
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1916T>C
  hgvsp: ENSP00000340759.2:p.Leu639Ser
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25722
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14111
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1987Ser
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-233122120-GGAGAGCCGGCTGCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122120
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122105
    reference: chr 1
allele count: 1
allele frequency: 1.560939060939061e-5
allele num: 64064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsp: ENSP00000340759.2:p.Gly634_Ser638del
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsp: ENSP00000258229.8:p.Gly1982_Ser1986del
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 13845
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 67
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1982_Ser1986del
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: GGAGAGCCGGCTGCCC
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-233122121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122121
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122121
    reference: chr 1
allele count: 1
allele frequency: 1.552216565255184e-5
allele num: 64424
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5957C>T
  hgvsp: ENSP00000258229.8:p.Ser1986Phe
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1296C>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1913C>T
  hgvsp: ENSP00000340759.2:p.Ser638Phe
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
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genotype quality: GenotypeQuality
  all individuals: 1356
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 68
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genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1986Phe
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-233122122-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122122
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122122
    reference: chr 1
allele count: 2
allele frequency: 3.092911047878263e-5
allele num: 64664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1912T>G
  hgvsp: ENSP00000340759.2:p.Ser638Ala
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5956T>G
  hgvsp: ENSP00000258229.8:p.Ser1986Ala
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1295T>G
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 4
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 163
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 375
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1986Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-233122127-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122127
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122127
    reference: chr 1
allele count: 19582
allele frequency: 2.575562278048139e-1
allele num: 76030
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5951G>A
  hgvsp: ENSP00000258229.8:p.Arg1984Gln
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1290G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1907G>A
  hgvsp: ENSP00000340759.2:p.Arg636Gln
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 2.75e1
  variant carriers: 1817
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 1.75e1
  variant carriers: 5166
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.25e1
  variant carriers: 874
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 12461
  bin: 2.25e1
  variant carriers: 3406
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 2.5e0
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 264
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 428
genotype depth: GenotypeDepth
  all individuals: 18971
  bin: 7.5e0
  variant carriers: 2243
genotype depth: GenotypeDepth
  all individuals: 11480
  bin: 1.25e1
  variant carriers: 5267
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 4.25e1
  variant carriers: 217
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 177
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 3.25e1
  variant carriers: 278
genotype quality: GenotypeQuality
  all individuals: 9681
  bin: 6.25e1
  variant carriers: 316
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 2.5e0
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.5e0
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 15040
  bin: 9.75e1
  variant carriers: 15030
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 1.25e1
  variant carriers: 124
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 311
genotype quality: GenotypeQuality
  all individuals: 17536
  bin: 2.25e1
  variant carriers: 249
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 5.75e1
  variant carriers: 298
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 388
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 5.25e1
  variant carriers: 395
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 305
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 9.25e1
  variant carriers: 403
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 2.75e1
  variant carriers: 187
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.25e1
  variant carriers: 407
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 389
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.75e1
  variant carriers: 343
hgvs: p.Arg1984Gln
num of homozygotes: 1919
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-233122135-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122135
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122135
    reference: chr 1
allele count: 4
allele frequency: 5.441140463041054e-5
allele num: 73514
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5943G>A
  hgvsp: ENST00000258229.9:c.5943G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1282G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1899G>A
  hgvsp: ENST00000344698.2:c.1899G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12391
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1981Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-233122135-CGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122135
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122133
    reference: chr 1
allele count: 1
allele frequency: 1.360285115760263e-5
allele num: 73514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1280_*1281delTC
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1897_1898delTC
  hgvsp: ENSP00000340759.2:p.Ser633GlyfsTer30
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5941_5942delTC
  hgvsp: ENSP00000258229.8:p.Ser1981GlyfsTer30
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1981GlyfsTer30
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: CGA
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

1-233122141-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122141
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122141
    reference: chr 1
allele count: 1
allele frequency: 1.343580372977912e-5
allele num: 74428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1893G>A
  hgvsp: ENST00000344698.2:c.1893G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1276G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5937G>A
  hgvsp: ENST00000258229.9:c.5937G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13101
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg1979Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

1-233122142-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122142
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122142
    reference: chr 1
allele count: 1
allele frequency: 1.342462075446369e-5
allele num: 74490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1892G>C
  hgvsp: ENSP00000340759.2:p.Arg631Thr
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1275G>C
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5936G>C
  hgvsp: ENSP00000258229.8:p.Arg1979Thr
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg1979Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-233122149-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122149
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122149
    reference: chr 1
allele count: 2
allele frequency: 2.700075602116859e-5
allele num: 74072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1885G>T
  hgvsp: ENSP00000340759.2:p.Ala629Ser
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5929G>T
  hgvsp: ENSP00000258229.8:p.Ala1977Ser
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1268G>T
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 12
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1977Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-233122155-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122155
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122155
    reference: chr 1
allele count: 2
allele frequency: 2.681324574339724e-5
allele num: 74590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1262G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1879G>A
  hgvsp: ENSP00000340759.2:p.Glu627Lys
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5923G>A
  hgvsp: ENSP00000258229.8:p.Glu1975Lys
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu1975Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

1-233122165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122165
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122165
    reference: chr 1
allele count: 1
allele frequency: 1.323206393733294e-5
allele num: 75574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1252C>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5913C>T
  hgvsp: ENST00000258229.9:c.5913C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1869C>T
  hgvsp: ENST00000344698.2:c.1869C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 20650
  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr1971Thr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-233122171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122171
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122171
    reference: chr 1
allele count: 216
allele frequency: 2.840535493543042e-3
allele num: 76042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1863G>A
  hgvsp: ENST00000344698.2:c.1863G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5907G>A
  hgvsp: ENST00000258229.9:c.5907G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1246G>A
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14016
  bin: 2.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20426
  bin: 7.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 1.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 1.75e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15595
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25210
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.75e1
  variant carriers: 209
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.25e1
  variant carriers: 3
hgvs: p.Thr1969Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

1-233122172-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122172
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122172
    reference: chr 1
allele count: 516
allele frequency: 6.760120529280754e-3
allele num: 76330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1245C>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1862C>T
  hgvsp: ENSP00000340759.2:p.Thr621Met
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5906C>T
  hgvsp: ENSP00000258229.8:p.Thr1969Met
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 12839
  bin: 1.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 14398
  bin: 2.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20319
  bin: 7.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 2.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 1.75e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 25222
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.75e1
  variant carriers: 476
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3595
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 16348
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 6.75e1
  variant carriers: 6
hgvs: p.Thr1969Met
num of homozygotes: 2
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-233122183-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122183
    reference: chr 1
allele count: 1
allele frequency: 1.301033020218053e-5
allele num: 76862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1234A>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1851A>G
  hgvsp: ENST00000344698.2:c.1851A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5895A>G
  hgvsp: ENST00000258229.9:c.5895A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25701
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2391
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
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genotype quality: GenotypeQuality
  all individuals: 1459
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1460
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1965Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ

1-233122186-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122186
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122186
    reference: chr 1
allele count: 1
allele frequency: 1.302320735550751e-5
allele num: 76786
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5892A>G
  hgvsp: ENST00000258229.9:c.5892A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1231A>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1848A>G
  hgvsp: ENST00000344698.2:c.1848A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20520
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 542
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
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genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 866
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 15775
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genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 25922
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genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 47
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genotype quality: GenotypeQuality
  all individuals: 1302
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genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1964Gln
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

1-233122190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122190
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122190
    reference: chr 1
allele count: 4
allele frequency: 5.257208947769629e-5
allele num: 76086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1227G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5888G>A
  hgvsp: ENSP00000258229.8:p.Arg1963His
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1844G>A
  hgvsp: ENSP00000340759.2:p.Arg615His
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1963His
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

1-233122192-GCTCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122192
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122188
    reference: chr 1
allele count: 2
allele frequency: 2.621025869525332e-5
allele num: 76306
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5882_5885delAGAG
  hgvsp: ENSP00000258229.8:p.Glu1961AlafsTer46
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1221_*1224delAGAG
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1838_1841delAGAG
  hgvsp: ENSP00000340759.2:p.Glu613AlafsTer46
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12616
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 570
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genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 873
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 219
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu1961AlafsTer46
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: GCTCT
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

1-233122195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122195
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122195
    reference: chr 1
allele count: 17
allele frequency: 2.215041434304477e-4
allele num: 76748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1222G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1839G>A
  hgvsp: ENST00000344698.2:c.1839G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5883G>A
  hgvsp: ENST00000258229.9:c.5883G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15463
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12649
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26411
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1412
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu1961Glu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

1-233122199-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122199
    reference: chr 1
allele count: 5
allele frequency: 6.522476453860002e-5
allele num: 76658
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5879T>C
  hgvsp: ENSP00000258229.8:p.Leu1960Ser
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1835T>C
  hgvsp: ENSP00000340759.2:p.Leu612Ser
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1218T>C
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12539
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15828
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26750
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genotype quality: GenotypeQuality
  all individuals: 888
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genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 120
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genotype quality: GenotypeQuality
  all individuals: 468
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1373
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genotype quality: GenotypeQuality
  all individuals: 230
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genotype quality: GenotypeQuality
  all individuals: 17772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1960Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

1-233122203-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122203
    reference: chr 1
allele count: 1
allele frequency: 1.319052392761041e-5
allele num: 75812
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5875A>G
  hgvsp: ENSP00000258229.8:p.Ile1959Val
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1214A>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1831A>G
  hgvsp: ENSP00000340759.2:p.Ile611Val
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 16024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 26
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile1959Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-233122206-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122206
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122206
    reference: chr 1
allele count: 1
allele frequency: 1.321178491214163e-5
allele num: 75690
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5872C>A
  hgvsp: ENSP00000258229.8:p.Pro1958Thr
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1211C>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1828C>A
  hgvsp: ENSP00000340759.2:p.Pro610Thr
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21049
  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16389
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1958Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-233122213-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122213
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122213
    reference: chr 1
allele count: 4
allele frequency: 5.313355118089318e-5
allele num: 75282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1821A>T
  hgvsp: ENST00000344698.2:c.1821A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5865A>T
  hgvsp: ENST00000258229.9:c.5865A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1204A>T
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12610
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16113
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser1955Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-233122220-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122220
    reference: chr 1
allele count: 2
allele frequency: 2.705188551642049e-5
allele num: 73932
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1814T>C
  hgvsp: ENSP00000340759.2:p.Leu605Pro
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5858T>C
  hgvsp: ENSP00000258229.8:p.Leu1953Pro
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1197T>C
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16538
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  variant carriers: 0
hgvs: p.Leu1953Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-233122228-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122228
    reference: chr 1
allele count: 5
allele frequency: 7.001036153350696e-5
allele num: 71418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1806G>T
  hgvsp: ENST00000344698.2:c.1806G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1189G>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5850G>T
  hgvsp: ENST00000258229.9:c.5850G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12964
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1950Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-233122229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122229
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122229
    reference: chr 1
allele count: 1
allele frequency: 1.396375010472813e-5
allele num: 71614
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5849C>T
  hgvsp: ENSP00000258229.8:p.Pro1950Leu
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1805C>T
  hgvsp: ENSP00000340759.2:p.Pro602Leu
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1188C>T
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
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genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 22611
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 2.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 134
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 843
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 376
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genotype quality: GenotypeQuality
  all individuals: 29728
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1950Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-233122231-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122231
    reference: chr 1
allele count: 1
allele frequency: 1.405046928567414e-5
allele num: 71172
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5847G>T
  hgvsp: ENSP00000258229.8:p.Arg1949Ser
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1186G>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1803G>T
  hgvsp: ENSP00000340759.2:p.Arg601Ser
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14927
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1949Ser
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: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

1-233122237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122237
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122237
    reference: chr 1
allele count: 1
allele frequency: 1.448981366099632e-5
allele num: 69014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1797C>T
  hgvsp: ENST00000344698.2:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1180C>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5841C>T
  hgvsp: ENST00000258229.9:c.5841C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13988
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1106
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genotype quality: GenotypeQuality
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1947Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-233122243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122243
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122243
    reference: chr 1
allele count: 2
allele frequency: 2.97000297000297e-5
allele num: 67340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1791G>A
  hgvsp: ENST00000344698.2:c.1791G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1174G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5835G>A
  hgvsp: ENST00000258229.9:c.5835G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 959
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala1945Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

1-233122246-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122246
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122246
    reference: chr 1
allele count: 2
allele frequency: 3.024254521260509e-5
allele num: 66132
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5832A>G
  hgvsp: ENST00000258229.9:c.5832A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1171A>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1788A>G
  hgvsp: ENST00000344698.2:c.1788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 13524
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13586
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  variant carriers: 0
hgvs: p.Ser1944Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-233122249-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122249
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122249
    reference: chr 1
allele count: 2
allele frequency: 3.040437823046519e-5
allele num: 65780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1168C>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5829C>G
  hgvsp: ENSP00000258229.8:p.His1943Gln
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1785C>G
  hgvsp: ENSP00000340759.2:p.His595Gln
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 393
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15
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  variant carriers: 0
hgvs: p.His1943Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-233122252-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122252
    reference: chr 1
allele count: 2
allele frequency: 3.104336758451557e-5
allele num: 64426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1782A>G
  hgvsp: ENST00000344698.2:c.1782A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5826A>G
  hgvsp: ENST00000258229.9:c.5826A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1165A>G
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24942
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3071
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1942Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-233122254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122254
    reference: chr 1
allele count: 4
allele frequency: 6.361525493813417e-5
allele num: 62878
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5824G>A
  hgvsp: ENSP00000258229.8:p.Ala1942Thr
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1163G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1780G>A
  hgvsp: ENSP00000340759.2:p.Ala594Thr
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14229
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12423
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1942Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-233122260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122260
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122260
    reference: chr 1
allele count: 2
allele frequency: 3.351206434316354e-5
allele num: 59680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1774G>A
  hgvsp: ENSP00000340759.2:p.Val592Met
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5818G>A
  hgvsp: ENSP00000258229.8:p.Val1940Met
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1157G>A
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25826
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34432
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1957
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genotype quality: GenotypeQuality
  all individuals: 657
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genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 10494
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 137
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Val1940Met
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

1-233122261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122261
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122261
    reference: chr 1
allele count: 2
allele frequency: 3.356267830172848e-5
allele num: 59590
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5817C>T
  hgvsp: ENST00000258229.9:c.5817C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1773C>T
  hgvsp: ENST00000344698.2:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1156C>T
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14596
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9797
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2329
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 340
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34911
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  variant carriers: 0
hgvs: p.Ser1939Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-233122262-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122262
    reference: chr 1
allele count: 1
allele frequency: 1.698542650405952e-5
allele num: 58874
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5816C>A
  hgvsp: ENSP00000258229.8:p.Ser1939Tyr
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1772C>A
  hgvsp: ENSP00000340759.2:p.Ser591Tyr
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1155C>A
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10634
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser1939Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

1-233122267-GCTCCTGCCTTTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122267
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122255
    reference: chr 1
allele count: 1
allele frequency: 1.77355278093076e-5
allele num: 56384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsp: ENSP00000340759.2:p.Arg585_Arg588del
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsp: ENSP00000258229.8:p.Arg1933_Arg1936del
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 15385
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 35759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1933_Arg1936del
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: GCTCCTGCCTTTC
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-233122277-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122277
    reference: chr 1
allele count: 11
allele frequency: 2.12363411714738e-4
allele num: 51798
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5801A>T
  hgvsp: ENSP00000258229.8:p.Lys1934Ile
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1140A>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1757A>T
  hgvsp: ENSP00000340759.2:p.Lys586Ile
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16167
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  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1791
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  variant carriers: 4
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Lys1934Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-233122282-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122282
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122282
    reference: chr 1
allele count: 2
allele frequency: 4.05465677330414e-5
allele num: 49326
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5796G>A
  hgvsp: ENST00000258229.9:c.5796G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1752G>A
  hgvsp: ENST00000344698.2:c.1752G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1135G>A
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg1932Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-233122285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122285
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122285
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 47332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1749C>T
  hgvsp: ENST00000344698.2:c.1749C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5793C>T
  hgvsp: ENST00000258229.9:c.5793C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1132C>T
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 238
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  variant carriers: 0
hgvs: c.5793C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-233122287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122287
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122287
    reference: chr 1
allele count: 1
allele frequency: 2.134198395082807e-5
allele num: 46856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1131-1G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1748-1G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5792-1G>A
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16655
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 454
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
hgvs: c.5792-1G>A
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-233122303-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122303
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122301
    reference: chr 1
allele count: 1
allele frequency: 2.641310089804543e-5
allele num: 37860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5792-19_5792-18delGT
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1131-19_*1131-18delGT
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1748-19_1748-18delGT
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 15224
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 5
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 316
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1967
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 57
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genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: AAC
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-233122314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122314
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122314
    reference: chr 1
allele count: 1
allele frequency: 3.9032006245121e-5
allele num: 25620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1131-28C>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5792-28C>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1748-28C>T
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24611
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20518
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 3
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 1261
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 21188
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

1-233122315-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122315
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 25648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1131-29A>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5792-29A>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1748-29A>G
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20592
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 40
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
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  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

1-233122318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122318
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122318
    reference: chr 1
allele count: 4
allele frequency: 1.729355814958928e-4
allele num: 23130
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5792-32G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1131-32G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1748-32G>A
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21233
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

1-233122319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122319
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122319
    reference: chr 1
allele count: 316
allele frequency: 1.407321635343369e-2
allele num: 22454
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5792-33C>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1748-33C>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1131-33C>T
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 20
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 8
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 395
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 41
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 1.25e1
  variant carriers: 230
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 45
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5529
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 18818
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 82
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  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.75e1
  variant carriers: 382
num of homozygotes: 2
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

1-233122328-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122328
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122328
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 16106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1131-42T>C
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5792-42T>C
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1748-42T>C
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26838
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-233122329-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122329
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122329
    reference: chr 1
allele count: 1
allele frequency: 6.186587478346944e-5
allele num: 16164
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5792-43A>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1748-43A>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1131-43A>G
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 757
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-233122334-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233122334
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233122334
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 15194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1748-48T>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5792-48T>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1131-48T>A
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22463
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

1-233133952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233133952
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233133952
    reference: chr 1
allele count: 1
allele frequency: 1.315097317201473e-5
allele num: 76040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1747+45G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1130+45G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5791+45G>A
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8493
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6438
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4550
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-233133954-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233133954
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233133954
    reference: chr 1
allele count: 1
allele frequency: 1.309208975936739e-5
allele num: 76382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5791+43T>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1747+43T>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1130+43T>A
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 2216
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/1-233133955-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233133955
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233133955
    reference: chr 1
allele count: 1
allele frequency: 1.30684788290643e-5
allele num: 76520
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1130+42T>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5791+42T>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1747+42T>G
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 630
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genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-233133963-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233133963
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233133963
    reference: chr 1
allele count: 1
allele frequency: 1.284224585195459e-5
allele num: 77868
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5791+34A>C
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1747+34A>C
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1130+34A>C
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

1-233133967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233133967
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233133967
    reference: chr 1
allele count: 3
allele frequency: 3.816502557056713e-5
allele num: 78606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1130+30G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5791+30G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1747+30G>A
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12578
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-233133968-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233133968
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233133968
    reference: chr 1
allele count: 2
allele frequency: 2.526145607032789e-5
allele num: 79172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1747+29C>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5791+29C>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1130+29C>T
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16624
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 735
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 493
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-233133971-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233133971
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233133971
    reference: chr 1
allele count: 5
allele frequency: 6.189957413092998e-5
allele num: 80776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1747+26T>C
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5791+26T>C
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1130+26T>C
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17946
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-233133974-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233133974
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233133974
    reference: chr 1
allele count: 1
allele frequency: 1.218026796589525e-5
allele num: 82100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1130+23A>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1747+23A>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5791+23A>G
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 478
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-233133983-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233133983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233133983
    reference: chr 1
allele count: 9
allele frequency: 1.024800163968026e-4
allele num: 87822
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5791+14G>C
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1747+14G>C
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1130+14G>C
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

1-233133983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233133983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233133983
    reference: chr 1
allele count: 2
allele frequency: 2.277333697706725e-5
allele num: 87822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1130+14G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1747+14G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5791+14G>A
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-233133984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233133984
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233133984
    reference: chr 1
allele count: 1
allele frequency: 1.129279971090433e-5
allele num: 88552
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5791+13G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1747+13G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1130+13G>A
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
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1-233133995-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233133995
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233133995
    reference: chr 1
allele count: 2
allele frequency: 2.04586836882915e-5
allele num: 97758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1747+2T>C
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1130+2T>C
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5791+2T>C
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: c.5791+2T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
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site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-233133996-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233133996
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233133996
    reference: chr 1
allele count: 1
allele frequency: 1.015496476227227e-5
allele num: 98474
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5791+1G>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1130+1G>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1747+1G>T
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
hgvs: c.5791+1G>T
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-233134007-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134007
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134007
    reference: chr 1
allele count: 1
allele frequency: 9.577993601900274e-6
allele num: 104406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1120A>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5781A>G
  hgvsp: ENST00000258229.9:c.5781A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1737A>G
  hgvsp: ENST00000344698.2:c.1737A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1927Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-233134013-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134013
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134013
    reference: chr 1
allele count: 1
allele frequency: 9.302498651137695e-6
allele num: 107498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1114A>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5775A>G
  hgvsp: ENST00000258229.9:c.5775A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1731A>G
  hgvsp: ENST00000344698.2:c.1731A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1925Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

1-233134029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134029
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134029
    reference: chr 1
allele count: 1
allele frequency: 8.830957805683604e-6
allele num: 113238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1098G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5759G>A
  hgvsp: ENSP00000258229.8:p.Gly1920Glu
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1715G>A
  hgvsp: ENSP00000340759.2:p.Gly572Glu
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
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  variant carriers: 0
hgvs: p.Gly1920Glu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-233134030-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134030
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134030
    reference: chr 1
allele count: 1
allele frequency: 8.804987144718768e-6
allele num: 113572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1714G>C
  hgvsp: ENSP00000340759.2:p.Gly572Arg
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5758G>C
  hgvsp: ENSP00000258229.8:p.Gly1920Arg
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1097G>C
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37271
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1920Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-233134030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134030
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134030
    reference: chr 1
allele count: 5
allele frequency: 4.402493572359384e-5
allele num: 113572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1714G>A
  hgvsp: ENSP00000340759.2:p.Gly572Arg
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1097G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5758G>A
  hgvsp: ENSP00000258229.8:p.Gly1920Arg
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36628
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 37271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly1920Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-233134033-GCTGAGCACCGCCTTTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134033
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134017
    reference: chr 1
allele count: 1
allele frequency: 8.707615680674318e-6
allele num: 114842
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsp: ENSP00000258229.8:p.Arg1913SerfsTer29
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsp: ENSP00000340759.2:p.Arg565SerfsTer29
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1913SerfsTer29
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: GCTGAGCACCGCCTTTT
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

1-233134036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134036
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134036
    reference: chr 1
allele count: 1
allele frequency: 8.644536652835408e-6
allele num: 115680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1708C>T
  hgvsp: ENSP00000340759.2:p.Gln570Ter
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1091C>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5752C>T
  hgvsp: ENSP00000258229.8:p.Gln1918Ter
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 569
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genotype quality: GenotypeQuality
  all individuals: 676
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
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genotype quality: GenotypeQuality
  all individuals: 38936
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2851
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 360
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln1918Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

1-233134042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134042
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134042
    reference: chr 1
allele count: 5
allele frequency: 4.277818654711589e-5
allele num: 116882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1702G>A
  hgvsp: ENSP00000340759.2:p.Gly568Ser
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1085G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5746G>A
  hgvsp: ENSP00000258229.8:p.Gly1916Ser
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37160
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4592
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1916Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-233134043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134043
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134043
    reference: chr 1
allele count: 11
allele frequency: 9.393359748599535e-5
allele num: 117104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1084C>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1701C>T
  hgvsp: ENST00000344698.2:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5745C>T
  hgvsp: ENST00000258229.9:c.5745C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly1915Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-233134063-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134063
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134063
    reference: chr 1
allele count: 1
allele frequency: 8.40463263350759e-6
allele num: 118982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1064G>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5725G>T
  hgvsp: ENSP00000258229.8:p.Ala1909Ser
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1681G>T
  hgvsp: ENSP00000340759.2:p.Ala561Ser
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36471
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1909Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-233134063-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134063
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134063
    reference: chr 1
allele count: 9
allele frequency: 7.564169370156831e-5
allele num: 118982
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5725G>A
  hgvsp: ENSP00000258229.8:p.Ala1909Thr
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1064G>A
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1681G>A
  hgvsp: ENSP00000340759.2:p.Ala561Thr
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14193
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40615
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1909Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-233134064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134064
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134064
    reference: chr 1
allele count: 1
allele frequency: 8.39278220730172e-6
allele num: 119150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1063C>T
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1680C>T
  hgvsp: ENST00000344698.2:c.1680C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5724C>T
  hgvsp: ENST00000258229.9:c.5724C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1908Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-233134069-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134069
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134069
    reference: chr 1
allele count: 1
allele frequency: 8.367360599772408e-6
allele num: 119512
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5719A>G
  hgvsp: ENSP00000258229.8:p.Ser1907Gly
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1675A>G
  hgvsp: ENSP00000340759.2:p.Ser559Gly
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135749
  ensembl transcript: ENST00000497623
  gene symbol: PCNXL2
  hgvsc: ENST00000497623.1:n.639A>G
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1058A>G
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser1907Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

1-233134069-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233134069
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 233134069
    reference: chr 1
allele count: 1
allele frequency: 8.367360599772408e-6
allele num: 119512
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000258229
  ensembl transcript: ENST00000258229
  gene symbol: PCNXL2
  hgvsc: ENST00000258229.9:c.5719A>C
  hgvsp: ENSP00000258229.8:p.Ser1907Arg
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000340759
  ensembl transcript: ENST00000344698
  gene symbol: PCNXL2
  hgvsc: ENST00000344698.2:c.1675A>C
  hgvsp: ENSP00000340759.2:p.Ser559Arg
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135749
  ensembl transcript: ENST00000497623
  gene symbol: PCNXL2
  hgvsc: ENST00000497623.1:n.639A>C
  variant of: http://identifiers.org/hgnc/8736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135749
  ensembl protein: ENSP00000428488
  ensembl transcript: ENST00000462233
  gene symbol: PCNXL2
  hgvsc: ENST00000462233.1:c.*1058A>C
  variant of: http://identifiers.org/hgnc/8736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41267
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser1907Arg
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 373
bin: 5.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.748611950964763e-5
allele num: 36382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4718
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.414e1

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

DP
type: SiteQuality
SIO_000300: 8.26454e5

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

GenotypeQuality
all individuals: 2589
bin: 7.5e0
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4734
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.030044660982542e-4
allele num: 4926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

QD
type: SiteQuality
SIO_000300: 8.56e0

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 8.29269e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

GenotypeQuality
all individuals: 1461
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4924
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.016129032258065e-4
allele num: 4960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36718
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.175e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: -1.151e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

FS
type: SiteQuality
SIO_000300: 8.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.30605e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.612e0

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

GenotypeQuality
all individuals: 223
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36856
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.019292604501608e-4
allele num: 4976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.207e1

DP
type: SiteQuality
SIO_000300: 8.31215e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.362e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.87e-1

GenotypeQuality
all individuals: 358
bin: 7.25e1
variant carriers: 227

South Asian
type: Population
allele count: 2016
allele frequency: 1.78186317836309e-1
allele num: 11314
num of homozygotes: 159

European (Non-Finnish)
type: Population
allele count: 12132
allele frequency: 2.777599706946289e-1
allele num: 43678
num of homozygotes: 1242

African
type: Population
allele count: 1685
allele frequency: 2.860780984719864e-1
allele num: 5890
num of homozygotes: 196

East Asian
type: Population
allele count: 1453
allele frequency: 2.579900568181818e-1
allele num: 5632
num of homozygotes: 148

Latino
type: Population
allele count: 1188
allele frequency: 2.0e-1
allele num: 5940
num of homozygotes: 74

European (Finnish)
type: Population
allele count: 951
allele frequency: 3.134475939353988e-1
allele num: 3034
num of homozygotes: 82

Other
type: Population
allele count: 157
allele frequency: 2.896678966789668e-1
allele num: 542
num of homozygotes: 18

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.26972e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.612e1

VQSLOD
type: SiteQuality
SIO_000300: 4.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2966
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.519276534983341e-5
allele num: 42020
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 8.57803e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.544e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

QD
type: SiteQuality
SIO_000300: 1.441e1

GenotypeQuality
all individuals: 1144
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42020
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.823486506199854e-4
allele num: 5484
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.544e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

QD
type: SiteQuality
SIO_000300: 1.441e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 8.57803e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.2e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3106
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

Latino
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allele frequency: 1.640419947506562e-4
allele num: 6096
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42520
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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SIO_000300: 8.60051e5

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.766e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.350397217129695e-5
allele num: 42546
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3116
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: 536
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11046
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 5586
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Latino
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allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.31e0

MQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.5958e5

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11002
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3120
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.728803139925285e-5
allele num: 42294
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 522
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MQ
type: SiteQuality
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QD
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VQSLOD
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.689e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

DP
type: SiteQuality
SIO_000300: 8.5509e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.704111393357794e-5
allele num: 42516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3190
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5530
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 5596
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Latino
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allele frequency: 0.0e0
allele num: 6190
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

DP
type: SiteQuality
SIO_000300: 8.60237e5

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.025e0

FS
type: SiteQuality
SIO_000300: 1.7762e1

VQSLOD
type: SiteQuality
SIO_000300: -1.023e0

QD
type: SiteQuality
SIO_000300: 3.195e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.048136083966703e-5
allele num: 11052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43042
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 5652
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3378
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 8.68708e5

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.674e0

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.077e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 1

Other
type: Population
allele count: 3
allele frequency: 5.617977528089887e-3
allele num: 534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 152
allele frequency: 3.510879105649743e-3
allele num: 43294
num of homozygotes: 0

Latino
type: Population
allele count: 40
allele frequency: 6.242197253433208e-3
allele num: 6408
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.054690329590728e-5
allele num: 11044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 5.78368999421631e-4
allele num: 3458
num of homozygotes: 0

African
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allele count: 4
allele frequency: 7.034822370735139e-4
allele num: 5686
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East Asian
type: Population
allele count: 14
allele frequency: 2.491990032039872e-3
allele num: 5618
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

DP
type: SiteQuality
SIO_000300: 8.76427e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 15

South Asian
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allele count: 43
allele frequency: 3.876667868734223e-3
allele num: 11092
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5628
num of homozygotes: 0

African
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allele count: 3
allele frequency: 5.268703898840885e-4
allele num: 5694
num of homozygotes: 0

Latino
type: Population
allele count: 32
allele frequency: 4.929143561306223e-3
allele num: 6492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 422
allele frequency: 9.723950412461404e-3
allele num: 43398
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 11
allele frequency: 3.146453089244851e-3
allele num: 3496
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 9.433962264150943e-3
allele num: 530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.81186e5

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.244e1

VQSLOD
type: SiteQuality
SIO_000300: 5.87e0

GenotypeQuality
all individuals: 46
bin: 8.25e1
variant carriers: 0

Latino
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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
allele num: 10816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.289377289377289e-5
allele num: 43680
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5728
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 8.80057e5

QD
type: SiteQuality
SIO_000300: 1.726e1

FS
type: SiteQuality
SIO_000300: 2.836e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5726
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.734304543877905e-4
allele num: 5766
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43668
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
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allele num: 6618
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Other
type: Population
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.0e-3

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.747e0

QD
type: SiteQuality
SIO_000300: 1.405e1

DP
type: SiteQuality
SIO_000300: 8.79373e5

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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allele frequency: 1.75561797752809e-4
allele num: 5696
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
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South Asian
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allele count: 1
allele frequency: 9.482268158543523e-5
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African
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 536
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European (Non-Finnish)
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allele count: 2
allele frequency: 4.619577770591768e-5
allele num: 43294
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3750
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.24e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5726
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European (Non-Finnish)
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allele count: 2
allele frequency: 4.607445632141541e-5
allele num: 43408
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3814
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African
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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num of homozygotes: 0

South Asian
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 550
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 17
allele frequency: 3.891585019686842e-4
allele num: 43684
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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Other
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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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South Asian
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African
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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: 1.14385065885798e-4
allele num: 43712
num of homozygotes: 0

ReadPosRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
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VQSLOD
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DP
type: SiteQuality
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QD
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InbreedingCoeff
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

East Asian
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African
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.304572271386431e-5
allele num: 43392
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6714
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

DP
type: SiteQuality
SIO_000300: 8.73148e5

VQSLOD
type: SiteQuality
SIO_000300: -1.759e-1

FS
type: SiteQuality
SIO_000300: 3.312e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.517e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

QD
type: SiteQuality
SIO_000300: 1.162e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.305422353375138e-5
allele num: 43376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

DP
type: SiteQuality
SIO_000300: 8.73232e5

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.278e0

QD
type: SiteQuality
SIO_000300: 1.044e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 5.941770647653001e-4
allele num: 6732
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5776
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.426e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

FS
type: SiteQuality
SIO_000300: 1.0302e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 8.71888e5

QD
type: SiteQuality
SIO_000300: 1.015e1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5784
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.75377060680463e-4
allele num: 5702
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.494768310911809e-4
allele num: 6690
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

FS
type: SiteQuality
SIO_000300: 2.693e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.60022e5

QD
type: SiteQuality
SIO_000300: 1.044e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
all individuals: 15
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 3.055300947143294e-4
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 5.343783398646241e-4
allele num: 5614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.498e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

DP
type: SiteQuality
SIO_000300: 8.45525e5

QD
type: SiteQuality
SIO_000300: 8.35e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.407897905128822e-5
allele num: 41530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5684
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7748
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

FS
type: SiteQuality
SIO_000300: 5.305e0

DP
type: SiteQuality
SIO_000300: 8.47306e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 6.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.217e-1

GenotypeQuality
all individuals: 45
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.419315817486815e-5
allele num: 41334
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

DP
type: SiteQuality
SIO_000300: 8.42819e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.206e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 3.751e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 5.47e0

GenotypeQuality
all individuals: 44
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.485336514564072e-5
allele num: 40236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5490
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.271e1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.355e0

DP
type: SiteQuality
SIO_000300: 8.24301e5

FS
type: SiteQuality
SIO_000300: 2.187e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.48e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3870
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.876172607879925e-4
allele num: 5330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.538071065989848e-5
allele num: 39400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

DP
type: SiteQuality
SIO_000300: 8.1515e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.25e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3854
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.277613897082924e-4
allele num: 6102
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38738
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.036e1

FS
type: SiteQuality
SIO_000300: 9.389999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.97703e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.184839529216571e-5
allele num: 38574
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3856
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 6.035e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

DP
type: SiteQuality
SIO_000300: 7.94145e5

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3846
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.33555703802535e-4
allele num: 5996
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.476e1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

DP
type: SiteQuality
SIO_000300: 7.77157e5

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5112
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 1.079913606911447e-4
allele num: 37040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5820
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.139e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.841e0

MQ
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
all individuals: 750
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4814
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.047502047502048e-4
allele num: 4884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.830936473785528e-5
allele num: 35324
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4980
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.718e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 1.808318264014467e-4
allele num: 5530
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.869275794789395e-5
allele num: 34852
num of homozygotes: 0

East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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SIO_000300: -2.517e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 33474
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Other
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allele frequency: 0.0e0
allele num: 368
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Latino
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allele frequency: 1.929012345679012e-4
allele num: 5184
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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DP
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 338
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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allele frequency: 2.398081534772182e-3
allele num: 4170
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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num of homozygotes: 0

Latino
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allele frequency: 2.114164904862579e-4
allele num: 4730
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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FS
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VQSLOD
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DP
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InbreedingCoeff
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QD
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MQ
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4158
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 29522
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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allele frequency: 5.040322580645161e-4
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Other
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South Asian
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 3354
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 28398
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South Asian
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Other
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allele frequency: 0.0e0
allele num: 308
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InbreedingCoeff
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
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MQ
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 3748
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
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Latino
type: Population
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allele frequency: 2.302025782688766e-4
allele num: 4344
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28080
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 3070
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3320
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MQ
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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DP
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 4.375218760938047e-5
allele num: 22856
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Latino
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allele frequency: 0.0e0
allele num: 3302
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2958
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African
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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allele frequency: 0.0e0
allele num: 274
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.557e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 1976
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European (Non-Finnish)
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allele count: 1
allele frequency: 6.453278265358803e-5
allele num: 15496
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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: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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QD
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GenotypeQuality
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variant carriers: 1

African
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allele frequency: 0.0e0
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Other
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allele num: 198
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Latino
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allele frequency: 0.0e0
allele num: 1936
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1970
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European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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FS
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QD
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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Other
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South Asian
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Latino
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allele frequency: 1.833740831295844e-3
allele num: 1636
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
type: SiteQuality
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DP
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ClippingRankSum
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GenotypeQuality
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variant carriers: 12

South Asian
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allele frequency: 5.44280442804428e-2
allele num: 1084
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European (Finnish)
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allele frequency: 8.481764206955046e-3
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European (Non-Finnish)
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allele frequency: 1.611004855083125e-2
allele num: 13594
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African
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allele frequency: 5.065856129685917e-4
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Latino
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allele frequency: 9.386733416770964e-3
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East Asian
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Other
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allele frequency: 1.149425287356322e-2
allele num: 174
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
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FS
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MQ
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
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GenotypeQuality
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bin: 1.25e1
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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Other
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European (Non-Finnish)
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Latino
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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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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 140
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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East Asian
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African
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allele frequency: 6.426735218508997e-4
allele num: 1556
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2042
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 136
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 552
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South Asian
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allele frequency: 1.870557426112982e-4
allele num: 5346
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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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allele frequency: 0.0e0
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Latino
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African
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allele frequency: 0.0e0
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East Asian
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 1.320655044902272e-4
allele num: 7572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44938
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (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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East Asian
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

MQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6944
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45050
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Other
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allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

South Asian
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allele frequency: 1.865671641791045e-4
allele num: 5360
num of homozygotes: 0

Latino
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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
allele num: 5830
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
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45762
num of homozygotes: 0

Latino
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allele frequency: 1.295336787564767e-4
allele num: 7720
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5222
num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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QD
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ClippingRankSum
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MQ
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 8.58492e5

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 7106
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5256
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European (Non-Finnish)
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allele count: 3
allele frequency: 6.50110518788194e-5
allele num: 46146
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 564
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.58e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 6076
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Latino
type: Population
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allele frequency: 1.271294177472667e-4
allele num: 7866
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Other
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5262
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.153779883695886e-5
allele num: 46430
num of homozygotes: 0

MQRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 2

European (Non-Finnish)
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allele frequency: 1.056903694935317e-4
allele num: 47308
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 7274
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5334
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Other
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allele frequency: 0.0e0
allele num: 574
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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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South Asian
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allele frequency: 0.0e0
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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DP
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MQRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.08073241781107e-5
allele num: 48060
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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allele frequency: 0.0e0
allele num: 574
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European (Finnish)
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allele frequency: 0.0e0
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African
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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DP
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MQ
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QD
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GenotypeQuality
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variant carriers: 0

Other
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South Asian
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African
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.758361988121288e-4
allele num: 51184
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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QD
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MQ
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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Other
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South Asian
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European (Non-Finnish)
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allele frequency: 3.907471084713973e-5
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European (Finnish)
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African
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East Asian
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Latino
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num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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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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Other
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South Asian
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East Asian
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Latino
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allele frequency: 9.706853038245001e-5
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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East Asian
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Other
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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VQSLOD
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MQ
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GenotypeQuality
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African
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South Asian
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Other
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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 frequency: 1.574803149606299e-5
allele num: 63500
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Latino
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East Asian
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.570845114671693e-5
allele num: 63660
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Other
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Latino
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African
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European (Finnish)
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East Asian
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South Asian
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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MQRankSum
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ClippingRankSum
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FS
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.141690229343387e-5
allele num: 63660
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South Asian
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Latino
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African
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East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.557875058420315e-5
allele num: 64190
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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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African
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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QD
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GenotypeQuality
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variant carriers: 0

South Asian
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Latino
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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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Other
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European (Non-Finnish)
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East Asian
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African
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MQRankSum
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QD
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 5

Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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Latino
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South Asian
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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Other
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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African
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South Asian
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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QD
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DP
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GenotypeQuality
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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ClippingRankSum
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QD
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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African
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East Asian
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Latino
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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Other
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African
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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DP
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Other
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Latino
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African
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European (Finnish)
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South Asian
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MQ
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QD
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FS
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.489668e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: -1.114e0

VQSLOD
type: SiteQuality
SIO_000300: -2.327e0

GenotypeQuality
all individuals: 2604
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 3.25e1
variant carriers: 0