2-131116822-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116822
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116822
    reference: chr 2
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3049A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.43A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3049A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*128A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.129A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+274A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.219A>G
  hgvsp: ENST00000175756.5:c.219A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.73A>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13519
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val73Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-131116827-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116827
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116827
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3054T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.224T>G
  hgvsp: ENSP00000175756.5:p.Leu75Arg
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.134T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.78T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3054T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+279T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*133T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.48T>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu75Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

2-131116828-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116828
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116828
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.225C>G
  hgvsp: ENST00000175756.5:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3055C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*134C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.79C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3055C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.49C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+280C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.135C>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13520
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu75Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

2-131116836-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116836
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116836
    reference: chr 2
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*142T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3063T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+288T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.87T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3063T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.233T>C
  hgvsp: ENSP00000175756.5:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.143T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.57T>C
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4846
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5911
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu78Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-131116840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116840
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116840
    reference: chr 2
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.147G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.237G>A
  hgvsp: ENST00000175756.5:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3067G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+292G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3067G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.91G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*146G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.61G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5914
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln79Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-131116855-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116855
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116855
    reference: chr 2
allele count: 9
allele frequency: 7.413386929375134e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.162C>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3082C>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3082C>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+307C>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.252C>A
  hgvsp: ENSP00000175756.5:p.Ser84Arg
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*161C>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.76C>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.106C>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser84Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-131116855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116855
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116855
    reference: chr 2
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.76C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3082C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+307C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.106C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3082C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.162C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.252C>T
  hgvsp: ENST00000175756.5:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*161C>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser84Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD

2-131116856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116856
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116856
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.77G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.163G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*162G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3083G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3083G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.107G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.253G>A
  hgvsp: ENSP00000175756.5:p.Asp85Asn
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+308G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5914
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp85Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-131116856-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116856
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116856
    reference: chr 2
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3083G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3083G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.253G>C
  hgvsp: ENSP00000175756.5:p.Asp85His
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.77G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*162G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.107G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.163G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+308G>C
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13520
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp85His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-131116860-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116860
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116860
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.257A>G
  hgvsp: ENSP00000175756.5:p.Tyr86Cys
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+312A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3087A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3087A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.167A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.111A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*166A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.81A>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13517
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr86Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-131116863-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116863
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116863
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.260T>C
  hgvsp: ENSP00000175756.5:p.Ile87Thr
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.170T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*169T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+315T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3090T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.114T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3090T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.84T>C
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile87Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

2-131116866-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116866
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116866
    reference: chr 2
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.263A>G
  hgvsp: ENSP00000175756.5:p.Asn88Ser
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3093A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.87A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+318A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3093A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.173A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.117A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*172A>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13518
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4847
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16873
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn88Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-131116866-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116866
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116866
    reference: chr 2
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.87A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.117A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3093A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.173A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3093A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*172A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.263A>T
  hgvsp: ENSP00000175756.5:p.Asn88Ile
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+318A>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13518
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn88Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-131116868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116868
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116868
    reference: chr 2
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.175G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*174G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.265G>A
  hgvsp: ENSP00000175756.5:p.Gly89Ser
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3095G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+320G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.119G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.89G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3095G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly89Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-131116872-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116872
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116872
    reference: chr 2
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3099A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.93A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.179A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*178A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.123A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.269A>G
  hgvsp: ENSP00000175756.5:p.Asn90Ser
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+324A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3099A>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5911
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4846
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn90Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-131116880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116880
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116880
    reference: chr 2
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.131C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.101C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3107C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.277C>T
  hgvsp: ENSP00000175756.5:p.Arg93Trp
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+332C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.187C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*186C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3107C>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg93Trp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-131116881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116881
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116881
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.132G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.278G>A
  hgvsp: ENSP00000175756.5:p.Arg93Gln
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3108G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+333G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*187G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.188G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.102G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3108G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg93Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-131116886-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116886
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116886
    reference: chr 2
allele count: 144
allele frequency: 1.186141908700021e-3
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+338A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3113A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*188+4A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.279+4A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.189+4A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3113A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.133+4A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.103+4A>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16321
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: c.279+4A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-131116888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116888
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116888
    reference: chr 2
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.189+6G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.279+6G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.133+6G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.103+6G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*188+6G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3115G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+340G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3115G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13472
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: c.279+6G>A
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-131116888-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116888
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116888
    reference: chr 2
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+340G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3115G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.189+6G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*188+6G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.279+6G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.103+6G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3115G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.133+6G>C
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13472
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: c.279+6G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-131116899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116899
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116899
    reference: chr 2
allele count: 89
allele frequency: 7.331136738056013e-4
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+351C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3126C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3126C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*188+17C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.279+17C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.133+17C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.189+17C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.103+17C>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13507
  bin: 9.75e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 5912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

2-131116900-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116900
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116900
    reference: chr 2
allele count: 15
allele frequency: 1.235645913307083e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.133+18G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3127G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+352G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.189+18G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3127G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.103+18G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.279+18G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*188+18G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-131116905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116905
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116905
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.103+23G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.133+23G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.279+23G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.189+23G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*188+23G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+357G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3132G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3132G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13445
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8613
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

2-131116908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116908
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116908
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*188+26G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3135G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+360G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.279+26G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.189+26G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.103+26G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.133+26G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3135G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4846
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13444
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-131116910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116910
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116910
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.189+28G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.133+28G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.279+28G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3137G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3137G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+362G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.103+28G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*188+28G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4843
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS

2-131116912-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116912
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116912
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+364A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.189+30A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3139A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.279+30A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*188+30A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.133+30A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3139A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.103+30A>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

2-131116919-G-GGGCTTCTCCCTTGGTGAAATGGGGACATGAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116919
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116950
    reference: chr 2
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: GGGCTTCTCCCTTGGTGAAATGGGGACATGAA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-131116924-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116924
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116923
    reference: chr 2
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.133+43delA
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3152delA
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.103+43delA
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.279+43delA
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.189+43delA
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+377delA
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3152delA
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*188+43delA
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: CA
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-131116928-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116928
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116928
    reference: chr 2
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3155G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+380G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-42G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3155G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-42G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-42G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-42G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-42G>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

2-131116930-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116930
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116930
    reference: chr 2
allele count: 3
allele frequency: 2.474471700291988e-5
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-40T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3157T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3157T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-40T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-40T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-40T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+382T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-40T>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14352
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4692
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-131116932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116932
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+384G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3159G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-38G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-38G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-38G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-38G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3159G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-38G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

2-131116935-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116935
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116935
    reference: chr 2
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-35C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3162C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3162C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-35C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-35C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-35C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-35C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+387C>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

2-131116935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116935
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116935
    reference: chr 2
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-35C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-35C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3162C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3162C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-35C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-35C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-35C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+387C>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

2-131116941-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116941
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116941
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-29A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-29A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-29A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+393A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3168A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-29A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-29A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3168A>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13471
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-131116946-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116946
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116946
    reference: chr 2
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-24A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3173A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-24A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-24A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-24A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+398A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3173A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-24A>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-131116950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116950
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116950
    reference: chr 2
allele count: 3
allele frequency: 2.472187886279357e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-20G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-20G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-20G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3177G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-20G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-20G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3177G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+402G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13459
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-131116952-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116952
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116952
    reference: chr 2
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-18G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-18G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3179G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+404G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-18G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-18G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3179G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-18G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8539
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-131116953-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116953
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116953
    reference: chr 2
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-17A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-17A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+405A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-17A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-17A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-17A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3180A>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3180A>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

2-131116957-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116957
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116957
    reference: chr 2
allele count: 9
allele frequency: 7.417541661859001e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+409C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-13C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3184C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-13C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3184C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-13C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-13C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-13C>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16656
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-131116958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116958
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116958
    reference: chr 2
allele count: 4
allele frequency: 3.296413502109704e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-12G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3185G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3185G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-12G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+410G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-12G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-12G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-12G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4835
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/2-131116960-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116960
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116960
    reference: chr 2
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3187C>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-10C>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-10C>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-10C>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+412C>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-10C>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-10C>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3187C>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

2-131116960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116960
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116960
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-10C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+412C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-10C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-10C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3187C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-10C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3187C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-10C>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

2-131116962-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116962
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116962
    reference: chr 2
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-8T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3189T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-8T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3189T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-8T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-8T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-8T>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+414T>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9446
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
hgvs: c.280-8T>G
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-131116968-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116968
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116968
    reference: chr 2
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.134-2A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3195A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.104-2A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.190-2A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*189-2A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.280-2A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3195A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+420A>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13446
  bin: 9.75e1
  variant carriers: 1
hgvs: c.280-2A>G
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-131116971-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116971
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116971
    reference: chr 2
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.281G>T
  hgvsp: ENSP00000175756.5:p.Gly94Val
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.191G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*190G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+423G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.135G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3198G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.105G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3198G>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly94Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

2-131116972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116972
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116972
    reference: chr 2
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*191C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.106C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+424C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3199C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.282C>T
  hgvsp: ENST00000175756.5:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.192C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3199C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.136C>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14304
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13446
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: c.282C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-131116973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116973
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116973
    reference: chr 2
allele count: 944
allele frequency: 7.780305278079979e-3
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*192G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.283G>A
  hgvsp: ENSP00000175756.5:p.Val95Met
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.107G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+425G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.193G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3200G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3200G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.137G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14181
  bin: 3.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 5.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 4.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 4.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 16408
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 9371
  bin: 3.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13945
  bin: 9.75e1
  variant carriers: 910
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val95Met
num of homozygotes: 31
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

2-131116999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131116999
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131116999
    reference: chr 2
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.309C>T
  hgvsp: ENST00000175756.5:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*218C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.133C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+451C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3226C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.219C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3226C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.163C>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5816
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala103Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-131117001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117001
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117001
    reference: chr 2
allele count: 7
allele frequency: 5.770530723954297e-5
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+453C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.135C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.221C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*220C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3228C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3228C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.311C>T
  hgvsp: ENSP00000175756.5:p.Thr104Met
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.165C>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14232
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13365
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Thr104Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-131117002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117002
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117002
    reference: chr 2
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3229G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.166G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+454G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.136G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.312G>A
  hgvsp: ENST00000175756.5:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.222G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*221G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3229G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14205
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4778
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr104Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-131117002-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117002
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117002
    reference: chr 2
allele count: 345
allele frequency: 2.844047285377475e-3
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.166G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.222G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3229G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*221G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.136G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3229G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+454G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.312G>C
  hgvsp: ENST00000175756.5:c.312G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 5.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16531
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 4.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14205
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr104Thr
num of homozygotes: 2
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

2-131117003-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117003
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117003
    reference: chr 2
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3230C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.313C>G
  hgvsp: ENSP00000175756.5:p.Gln105Glu
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.137C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.223C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.167C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*222C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+455C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3230C>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13271
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5821
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln105Glu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-131117003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117003
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117003
    reference: chr 2
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.167C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3230C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+455C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.313C>T
  hgvsp: ENSP00000175756.5:p.Gln105Ter
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.223C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*222C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3230C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.137C>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln105Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-131117018-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117018
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117018
    reference: chr 2
allele count: 2
allele frequency: 1.64883180266781e-5
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*237C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.182C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+470C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.152C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.328C>G
  hgvsp: ENSP00000175756.5:p.His110Asp
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.238C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3245C>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3245C>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13264
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His110Asp
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-131117019-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117019
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117019
    reference: chr 2
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3246A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+471A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.329A>G
  hgvsp: ENSP00000175756.5:p.His110Arg
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3246A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.183A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.153A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*238A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.239A>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His110Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

2-131117035-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117035
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117035
    reference: chr 2
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3262C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.255C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.199C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.169C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+487C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.345C>T
  hgvsp: ENST00000175756.5:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*254C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3262C>T
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13256
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe115Phe
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-131117043-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117043
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117043
    reference: chr 2
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3270T>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*262T>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3270T>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.177T>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.207T>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.263T>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.353T>A
  hgvsp: ENSP00000175756.5:p.Leu118Gln
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+495T>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13254
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu118Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-131117050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117050
    reference: chr 2
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.214G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+502G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*269G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.270G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.360G>A
  hgvsp: ENSP00000175756.5:p.Trp120Ter
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.184G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3277G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3277G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Trp120Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

2-131117053-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117053
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117053
    reference: chr 2
allele count: 3
allele frequency: 2.474145182839329e-5
allele num: 121254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.187G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+505G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.273G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.217G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*272G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.363G>C
  hgvsp: ENSP00000175756.5:p.Glu121Asp
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3280G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3280G>C
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9330
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4761
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13253
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4478
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu121Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-131117063-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117063
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117063
    reference: chr 2
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3290A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.197A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.283A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.373A>G
  hgvsp: ENSP00000175756.5:p.Lys125Glu
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3290A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*282A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.227A>G
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+515A>G
  variant of: http://identifiers.org/hgnc/9649
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys125Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

2-131117074-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117074
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117074
    reference: chr 2
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*284+9T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+526T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.238T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.375+9T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.285+9T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.199+9T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3301T>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3301T>C
  variant of: http://identifiers.org/hgnc/9649
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4705
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-131117076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117076
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117076
    reference: chr 2
allele count: 2
allele frequency: 1.650846058605035e-5
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3303G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.375+11G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3303G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*284+11G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.285+11G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.240G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+528G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.199+11G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-131117078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117078
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117078
    reference: chr 2
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*284+13G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.199+13G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+530G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.285+13G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.375+13G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.242G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3305G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3305G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7889
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-131117078-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117078
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117078
    reference: chr 2
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+530G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*284+13G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3305G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.242G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3305G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.375+13G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.285+13G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.199+13G>T
  variant of: http://identifiers.org/hgnc/9649
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13651
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4689
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

2-131117080-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117080
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117080
    reference: chr 2
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.285+15G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+532G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3307G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.199+15G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*284+15G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.244G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.375+15G>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3307G>T
  variant of: http://identifiers.org/hgnc/9649
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7871
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-131117081-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117081
    reference: chr 2
allele count: 2
allele frequency: 1.651227687785869e-5
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.245T>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3308T>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.375+16T>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.199+16T>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3308T>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*284+16T>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.285+16T>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+533T>A
  variant of: http://identifiers.org/hgnc/9649
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5586
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-131117081-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117082
    reference: chr 2
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3309dupG
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.246dupG
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*284+17dupG
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3309dupG
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.285+17dupG
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.199+17dupG
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+534dupG
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.375+17dupG
  variant of: http://identifiers.org/hgnc/9649
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13495
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5586
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13224
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-131117082-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117082
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117082
    reference: chr 2
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.285+17G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*284+17G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+534G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3309G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.199+17G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3309G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.246G>C
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.375+17G>C
  variant of: http://identifiers.org/hgnc/9649
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13476
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14985
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13224
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

2-131117083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117083
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117083
    reference: chr 2
allele count: 13
allele frequency: 1.074291380877613e-4
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.199+18C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3310C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.247C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3310C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+535C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*284+18C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.375+18C>T
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.285+18C>T
  variant of: http://identifiers.org/hgnc/9649
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13478
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14969
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-131117084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117084
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117084
    reference: chr 2
allele count: 51
allele frequency: 4.213135068153655e-4
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.248G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.199+19G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3311G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+536G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.375+19G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.285+19G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*284+19G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3311G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14961
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13357
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13244
  bin: 9.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4649
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 4
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-131117098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131117098
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131117098
    reference: chr 2
allele count: 1
allele frequency: 8.26541913940456e-6
allele num: 120986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000483617
  gene symbol: PTPN18
  hgvsc: ENST00000483617.1:n.83+550G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000175756
  ensembl transcript: ENST00000175756
  gene symbol: PTPN18
  hgvsc: ENST00000175756.5:c.375+33G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000460992
  gene symbol: PTPN18
  hgvsc: ENST00000460992.1:n.262G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000479295
  gene symbol: PTPN18
  hgvsc: ENST00000479295.1:n.199+33G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000310092
  ensembl transcript: ENST00000347849
  gene symbol: PTPN18
  hgvsc: ENST00000347849.3:c.93+3325G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl protein: ENSP00000411750
  ensembl transcript: ENST00000428843
  gene symbol: PTPN18
  hgvsc: ENST00000428843.1:c.*284+33G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000489215
  gene symbol: PTPN18
  hgvsc: ENST00000489215.1:n.146+3325G>A
  variant of: http://identifiers.org/hgnc/9649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072135
  ensembl transcript: ENST00000420717
  gene symbol: PTPN18
  hgvsc: ENST00000420717.1:n.285+33G>A
  variant of: http://identifiers.org/hgnc/9649
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12807
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

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

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

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5910
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2684
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8578
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.531e1

MQRankSum
type: SiteQuality
SIO_000300: 8.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

DP
type: SiteQuality
SIO_000300: 2.059408e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2684
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13518
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4728
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.158e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.059618e6

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.196e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.068e0

GenotypeQuality
all individuals: 4728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66718
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East Asian
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Other
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QD
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66722
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South Asian
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Other
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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FS
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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South Asian
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QD
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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South Asian
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Latino
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African
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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FS
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DP
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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Other
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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num of homozygotes: 0

Latino
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African
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Other
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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SIO_000300: 1.36e0

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

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

East Asian
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allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 14
allele frequency: 2.097944014865432e-4
allele num: 66732
num of homozygotes: 0

Other
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allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 60
allele frequency: 3.633720930232558e-3
allele num: 16512
num of homozygotes: 0

Latino
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allele count: 10
allele frequency: 8.637070305752289e-4
allele num: 11578
num of homozygotes: 0

QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.37e-1

FS
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DP
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MQ
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 12
allele frequency: 1.798399424512184e-4
allele num: 66726
num of homozygotes: 0

African
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allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

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

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

East Asian
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allele num: 8654
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66726
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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Latino
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VQSLOD
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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BaseQRankSum
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QD
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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African
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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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num of homozygotes: 0

MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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FS
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QD
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ReadPosRankSum
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SIO_000300: 2.0e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele num: 8654
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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African
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InbreedingCoeff
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VQSLOD
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MQ
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SIO_000300: 5.953e1

MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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QD
type: SiteQuality
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele num: 10404
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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ClippingRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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DP
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66722
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European (Finnish)
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East Asian
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African
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Latino
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Other
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South Asian
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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QD
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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East Asian
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FS
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DP
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.63948332369385e-5
allele num: 10374
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.001741009785676e-5
allele num: 66628
num of homozygotes: 0

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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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.99995e2

ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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DP
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SIO_000300: 2.064241e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.731e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.934e1

MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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South 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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InbreedingCoeff
type: SiteQuality
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DP
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ReadPosRankSum
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SIO_000300: 1.5e-1

MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
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SIO_000300: 3.15e0

GenotypeQuality
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variant carriers: 0

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

East Asian
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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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
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SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 2.064036e6

BaseQRankSum
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SIO_000300: 3.15e0

GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

South Asian
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East Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.089e0

MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

African
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allele num: 10398
num of homozygotes: 0

Other
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allele num: 908
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
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European (Finnish)
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South Asian
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

South Asian
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allele num: 16512
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European (Non-Finnish)
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allele num: 66710
num of homozygotes: 0

European (Finnish)
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Latino
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East Asian
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allele num: 8652
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Other
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele num: 66708
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199292417473691e-4
allele num: 66706
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

DP
type: SiteQuality
SIO_000300: 2.062453e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 5862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8523
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49734656552634e-5
allele num: 66706
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 2.061741e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4666
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13451
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2658
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.13798e2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.202e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: -1.209e1

DP
type: SiteQuality
SIO_000300: 2.061315e6

MQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 4.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 3473
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.202e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

DP
type: SiteQuality
SIO_000300: 2.061315e6

VQSLOD
type: SiteQuality
SIO_000300: -1.209e1

QD
type: SiteQuality
SIO_000300: 4.51e0

FS
type: SiteQuality
SIO_000300: 1.13798e2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13450
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variant carriers: 1

GenotypeQuality
all individuals: 5858
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.273e0

DP
type: SiteQuality
SIO_000300: 2.06109e6

MQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.072e1

GenotypeQuality
all individuals: 8539
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
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variant carriers: 0

GenotypeQuality
all individuals: 5864
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16733
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.086e0

FS
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: -7.5e-3

DP
type: SiteQuality
SIO_000300: 2.060593e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.166e1

GenotypeQuality
all individuals: 5867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8525
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.512e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-2

FS
type: SiteQuality
SIO_000300: 4.655e0

DP
type: SiteQuality
SIO_000300: 2.060189e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.883e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.060206e6

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 7.53e0

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

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

African
type: Population
allele count: 862
allele frequency: 8.291650634859561e-2
allele num: 10396
num of homozygotes: 30

Latino
type: Population
allele count: 55
allele frequency: 4.757785467128028e-3
allele num: 11560
num of homozygotes: 1

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.448379261746979e-4
allele num: 66698
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.468e1

DP
type: SiteQuality
SIO_000300: 2.086577e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.82e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 60
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GenotypeQuality
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GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 80
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.245e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 2.06737e6

MQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

VQSLOD
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 3439
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.885170225043277e-4
allele num: 10398
num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

FS
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InbreedingCoeff
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SIO_000300: -2.0e-4

QD
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SIO_000300: 1.149e1

ReadPosRankSum
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

DP
type: SiteQuality
SIO_000300: 2.067246e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.361e1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

FS
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 2.074898e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 342

Latino
type: Population
allele count: 5
allele frequency: 4.327505625757314e-4
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 271
allele frequency: 4.06321218663788e-3
allele num: 66696
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 47
allele frequency: 7.132018209408194e-3
allele num: 6590
num of homozygotes: 1

African
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allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

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

South Asian
type: Population
allele count: 19
allele frequency: 1.150957111703416e-3
allele num: 16508
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.361e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e0

DP
type: SiteQuality
SIO_000300: 2.074898e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.947e0

DP
type: SiteQuality
SIO_000300: 2.067485e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.439e0

VQSLOD
type: SiteQuality
SIO_000300: -2.091e0

MQ
type: SiteQuality
SIO_000300: 5.849e1

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.009e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.009e1

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.849e1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.067485e6

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
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East Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
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FS
type: SiteQuality
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BaseQRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.986e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
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African
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

MQ
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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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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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 1.155802126675913e-4
allele num: 8652
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.828e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.518e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

FS
type: SiteQuality
SIO_000300: 3.6e0

QD
type: SiteQuality
SIO_000300: 2.64e0

DP
type: SiteQuality
SIO_000300: 2.060813e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5755
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4765
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

FS
type: SiteQuality
SIO_000300: 6.359e0

DP
type: SiteQuality
SIO_000300: 2.05881e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.077e0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 2.057994e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.388e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 2.053351e6

MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

FS
type: SiteQuality
SIO_000300: 3.87e0

QD
type: SiteQuality
SIO_000300: 1.098e1

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

GenotypeQuality
all individuals: 13234
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7989
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variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.04296e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

FS
type: SiteQuality
SIO_000300: 4.084e0

QD
type: SiteQuality
SIO_000300: 1.377e1

GenotypeQuality
all individuals: 4688
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13231
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.025e0

VQSLOD
type: SiteQuality
SIO_000300: -6.551e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

FS
type: SiteQuality
SIO_000300: 9.645e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.185e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.317e0

DP
type: SiteQuality
SIO_000300: 2.040743e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15501
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GenotypeQuality
all individuals: 8
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

DP
type: SiteQuality
SIO_000300: 2.03778e6

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.83e-1

FS
type: SiteQuality
SIO_000300: 3.564e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.539e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.03778e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

QD
type: SiteQuality
SIO_000300: 1.539e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.564e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.83e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.91e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.01e-1

FS
type: SiteQuality
SIO_000300: 3.361e0

DP
type: SiteQuality
SIO_000300: 2.035072e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.427e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
all individuals: 628
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GenotypeQuality
all individuals: 14521
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

FS
type: SiteQuality
SIO_000300: 3.397e0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 2.031642e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.394e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

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

GenotypeQuality
all individuals: 7763
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3387
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2584
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

QD
type: SiteQuality
SIO_000300: 1.394e1

FS
type: SiteQuality
SIO_000300: 3.397e0

DP
type: SiteQuality
SIO_000300: 2.031642e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

GenotypeQuality
all individuals: 3388
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7761
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.285e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

DP
type: SiteQuality
SIO_000300: 2.031267e6

FS
type: SiteQuality
SIO_000300: 6.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 13219
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7619
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4651
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.820671037408407e-4
allele num: 10372
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.507617874207411e-5
allele num: 66554
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.033244358165494e-4
allele num: 16484
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.37e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

DP
type: SiteQuality
SIO_000300: 2.031933e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.49e0

GenotypeQuality
all individuals: 4263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15011
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 403
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5530
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

South Asian
type: Population
allele count: 50
allele frequency: 3.032508491023775e-3
allele num: 16488
num of homozygotes: 4

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

FS
type: SiteQuality
SIO_000300: 5.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.09e-2

DP
type: SiteQuality
SIO_000300: 2.029671e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.526e1