8-141810680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141810680
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141810680
    reference: chr 8
allele count: 8
allele frequency: 6.602621240632531e-5
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1108-5G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.976-5G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*608-5G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1007-5G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.976-5G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.976-5G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.976-5G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.976-5G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.414-5G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1108-5G>A
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
hgvs: c.976-5G>A
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: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

8-141810681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141810681
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141810681
    reference: chr 8
allele count: 5
allele frequency: 4.126978886376017e-5
allele num: 121154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*608-6C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1108-6C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.976-6C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.976-6C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.976-6C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1108-6C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1007-6C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.414-6C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.976-6C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.976-6C>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 8.25e1
  variant carriers: 0
hgvs: c.976-6C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/8-141810686-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141810686
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141810686
    reference: chr 8
allele count: 2
allele frequency: 1.651309488424321e-5
allele num: 121116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1108-11T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.976-11T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.976-11T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.414-11T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1108-11T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*608-11T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.976-11T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.976-11T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1007-11T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.976-11T>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

8-141810689-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141810689
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141810689
    reference: chr 8
allele count: 3
allele frequency: 2.477496077297878e-5
allele num: 121090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.976-14C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.976-14C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.976-14C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.976-14C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1007-14C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.976-14C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1108-14C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1108-14C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.414-14C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*608-14C>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

8-141810704-CTTCATTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141810704
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141810697
    reference: chr 8
allele count: 4
allele frequency: 3.305894409732553e-5
allele num: 120996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.976-36_976-30delCAATGAA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1108-36_1108-30delCAATGAA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.976-36_976-30delCAATGAA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.976-36_976-30delCAATGAA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.976-36_976-30delCAATGAA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*608-36_*608-30delCAATGAA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.414-36_414-30delCAATGAA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1108-36_1108-30delCAATGAA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1007-36_1007-30delCAATGAA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.976-36_976-30delCAATGAA
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: CTTCATTG
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

8-141810709-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141810709
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141810709
    reference: chr 8
allele count: 6
allele frequency: 4.959661420447031e-5
allele num: 120976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.976-34A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1108-34A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1007-34A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.976-34A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.414-34A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*608-34A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.976-34A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1108-34A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.976-34A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.976-34A>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7626
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

8-141810711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141810711
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141810711
    reference: chr 8
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.976-36C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.976-36C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.976-36C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.976-36C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1108-36C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1108-36C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1007-36C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.414-36C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.976-36C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*608-36C>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

8-141810715-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141810715
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141810715
    reference: chr 8
allele count: 7
allele frequency: 5.788664141706498e-5
allele num: 120926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.976-40A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.414-40A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1108-40A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1007-40A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1108-40A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.976-40A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.976-40A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.976-40A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.976-40A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*608-40A>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

8-141810717-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141810717
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141810717
    reference: chr 8
allele count: 2
allele frequency: 1.654259718775848e-5
allele num: 120900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1108-42G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.976-42G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*608-42G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.976-42G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.414-42G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.976-42G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1007-42G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.976-42G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1108-42G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.976-42G>C
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

8-141810726-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141810726
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141810726
    reference: chr 8
allele count: 1
allele frequency: 8.276912380605539e-6
allele num: 120818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.976-51G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.414-51G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1108-51G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.976-51G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.976-51G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*608-51G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.976-51G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1108-51G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.976-51G>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1007-51G>C
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-141813596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813596
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813596
    reference: chr 8
allele count: 1
allele frequency: 8.498487269266071e-6
allele num: 117668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.975+46G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.975+46G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.413+46G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1107+46G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1107+46G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.975+46G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*607+46G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.975+46G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1006+46G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.975+46G>A
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15636
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

8-141813598-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813598
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813598
    reference: chr 8
allele count: 1
allele frequency: 8.486370888353305e-6
allele num: 117836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*607+44A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.975+44A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.413+44A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1006+44A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.975+44A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.975+44A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1107+44A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.975+44A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.975+44A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1107+44A>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11221
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

http://identifiers.org/exac.variant/8-141813604-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813604
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813604
    reference: chr 8
allele count: 1
allele frequency: 8.458662516282926e-6
allele num: 118222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1107+38T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.975+38T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1006+38T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1107+38T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*607+38T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.975+38T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.975+38T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.413+38T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.975+38T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.975+38T>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27788
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

8-141813615-TTAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813615
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813612
    reference: chr 8
allele count: 1
allele frequency: 8.376191513242758e-6
allele num: 119386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1107+24_1107+26delTTA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.975+24_975+26delTTA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1107+24_1107+26delTTA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.975+24_975+26delTTA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1006+24_1006+26delTTA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.975+24_975+26delTTA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.975+24_975+26delTTA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.975+24_975+26delTTA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.413+24_413+26delTTA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*607+24_*607+26delTTA
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: TTAA
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS

8-141813627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813627
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813627
    reference: chr 8
allele count: 42
allele frequency: 3.486518793996547e-4
allele num: 120464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.413+15C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.975+15C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1006+15C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.975+15C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.975+15C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.975+15C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1107+15C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.975+15C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*607+15C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1107+15C>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13902
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26424
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

8-141813627-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813627
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813628
    reference: chr 8
allele count: 1
allele frequency: 8.301235223801302e-6
allele num: 120464
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1006+14dupA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.975+14dupA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1107+14dupA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.413+14dupA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.975+14dupA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.975+14dupA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1107+14dupA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.975+14dupA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*607+14dupA
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.975+14dupA
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5666
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

8-141813633-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813633
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813633
    reference: chr 8
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.975+9C>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*607+9C>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.975+9C>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1107+9C>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1006+9C>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1107+9C>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.975+9C>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.975+9C>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.413+9C>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.975+9C>A
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

8-141813645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813645
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813645
    reference: chr 8
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.972C>T
  hgvsp: ENST00000522684.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*604C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.972C>T
  hgvsp: ENST00000521059.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1104C>T
  hgvsp: ENST00000519419.1:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1003C>T
  hgvsp: ENST00000519654.1:c.1003C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.972C>T
  hgvsp: ENST00000535192.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.410C>T
  hgvsp: ENST00000524202.1:c.410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.972C>T
  hgvsp: ENST00000395218.2:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.972C>T
  hgvsp: ENST00000340930.3:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1104C>T
  hgvsp: ENST00000517887.1:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro324Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

8-141813646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813646
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813646
    reference: chr 8
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.409C>T
  hgvsp: ENSP00000429023.1:p.Pro137Leu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.971C>T
  hgvsp: ENSP00000378644.2:p.Pro324Leu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*603C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.971C>T
  hgvsp: ENSP00000429474.1:p.Pro324Leu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.971C>T
  hgvsp: ENSP00000341189.3:p.Pro324Leu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1103C>T
  hgvsp: ENSP00000429082.1:p.Pro368Leu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1103C>T
  hgvsp: ENSP00000429129.1:p.Pro368Leu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.971C>T
  hgvsp: ENSP00000438009.1:p.Pro324Leu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.971C>T
  hgvsp: ENSP00000429911.1:p.Pro324Leu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1002C>T
  hgvsp: ENSP00000429929.1:p.Pro335Leu
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro324Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

8-141813647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813647
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813647
    reference: chr 8
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.408C>T
  hgvsp: ENSP00000429023.1:p.Pro137Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1001C>T
  hgvsp: ENSP00000429929.1:p.Pro335Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1102C>T
  hgvsp: ENSP00000429129.1:p.Pro368Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.970C>T
  hgvsp: ENSP00000378644.2:p.Pro324Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.970C>T
  hgvsp: ENSP00000341189.3:p.Pro324Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.970C>T
  hgvsp: ENSP00000429911.1:p.Pro324Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1102C>T
  hgvsp: ENSP00000429082.1:p.Pro368Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.970C>T
  hgvsp: ENSP00000429474.1:p.Pro324Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.970C>T
  hgvsp: ENSP00000438009.1:p.Pro324Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*602C>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro324Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

8-141813648-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813648
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813648
    reference: chr 8
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.407A>G
  hgvsp: ENST00000524202.1:c.407A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1101A>G
  hgvsp: ENST00000517887.1:c.1101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1101A>G
  hgvsp: ENST00000519419.1:c.1101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.969A>G
  hgvsp: ENST00000340930.3:c.969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.969A>G
  hgvsp: ENST00000521059.1:c.969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.1000A>G
  hgvsp: ENST00000519654.1:c.1000A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.969A>G
  hgvsp: ENST00000395218.2:c.969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.969A>G
  hgvsp: ENST00000522684.1:c.969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.969A>G
  hgvsp: ENST00000535192.1:c.969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*601A>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala323Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

8-141813650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813650
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813650
    reference: chr 8
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.967G>A
  hgvsp: ENSP00000429474.1:p.Ala323Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.405G>A
  hgvsp: ENSP00000429023.1:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1099G>A
  hgvsp: ENSP00000429082.1:p.Ala367Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.998G>A
  hgvsp: ENSP00000429929.1:p.Ala334Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.967G>A
  hgvsp: ENSP00000378644.2:p.Ala323Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*599G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.967G>A
  hgvsp: ENSP00000429911.1:p.Ala323Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1099G>A
  hgvsp: ENSP00000429129.1:p.Ala367Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.967G>A
  hgvsp: ENSP00000341189.3:p.Ala323Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.967G>A
  hgvsp: ENSP00000438009.1:p.Ala323Thr
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala323Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

8-141813654-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813654
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813654
    reference: chr 8
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.401A>G
  hgvsp: ENST00000524202.1:c.401A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.963A>G
  hgvsp: ENST00000535192.1:c.963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.994A>G
  hgvsp: ENST00000519654.1:c.994A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*595A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.963A>G
  hgvsp: ENST00000521059.1:c.963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1095A>G
  hgvsp: ENST00000519419.1:c.1095A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.963A>G
  hgvsp: ENST00000340930.3:c.963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.963A>G
  hgvsp: ENST00000522684.1:c.963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1095A>G
  hgvsp: ENST00000517887.1:c.1095A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.963A>G
  hgvsp: ENST00000395218.2:c.963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala321Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

8-141813656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813656
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813656
    reference: chr 8
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.399G>A
  hgvsp: ENSP00000429023.1:p.Ala134Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1093G>A
  hgvsp: ENSP00000429082.1:p.Ala365Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.961G>A
  hgvsp: ENSP00000429911.1:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*593G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.961G>A
  hgvsp: ENSP00000438009.1:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.961G>A
  hgvsp: ENSP00000429474.1:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.961G>A
  hgvsp: ENSP00000341189.3:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1093G>A
  hgvsp: ENSP00000429129.1:p.Ala365Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.961G>A
  hgvsp: ENSP00000378644.2:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.992G>A
  hgvsp: ENSP00000429929.1:p.Ala332Thr
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala321Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

8-141813682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813682
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813682
    reference: chr 8
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.935G>A
  hgvsp: ENSP00000429911.1:p.Arg312Lys
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.966G>A
  hgvsp: ENSP00000429929.1:p.Arg323Lys
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1067G>A
  hgvsp: ENSP00000429129.1:p.Arg356Lys
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.935G>A
  hgvsp: ENSP00000438009.1:p.Arg312Lys
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.935G>A
  hgvsp: ENSP00000341189.3:p.Arg312Lys
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*567G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.935G>A
  hgvsp: ENSP00000378644.2:p.Arg312Lys
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.935G>A
  hgvsp: ENSP00000429474.1:p.Arg312Lys
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.373G>A
  hgvsp: ENSP00000429023.1:p.Arg125Lys
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1067G>A
  hgvsp: ENSP00000429082.1:p.Arg356Lys
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg312Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

8-141813701-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813701
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813701
    reference: chr 8
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.916A>G
  hgvsp: ENSP00000378644.2:p.Asn306Asp
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.916A>G
  hgvsp: ENSP00000429474.1:p.Asn306Asp
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.916A>G
  hgvsp: ENSP00000341189.3:p.Asn306Asp
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.916A>G
  hgvsp: ENSP00000438009.1:p.Asn306Asp
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*548A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.354A>G
  hgvsp: ENSP00000429023.1:p.Asn119Asp
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.916A>G
  hgvsp: ENSP00000429911.1:p.Asn306Asp
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1048A>G
  hgvsp: ENSP00000429129.1:p.Asn350Asp
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.947A>G
  hgvsp: ENSP00000429929.1:p.Asn317Asp
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1048A>G
  hgvsp: ENSP00000429082.1:p.Asn350Asp
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn306Asp
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: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

8-141813702-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813702
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813702
    reference: chr 8
allele count: 20
allele frequency: 1.648043772042586e-4
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.353A>C
  hgvsp: ENST00000524202.1:c.353A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1047A>C
  hgvsp: ENST00000517887.1:c.1047A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.946A>C
  hgvsp: ENST00000519654.1:c.946A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.915A>C
  hgvsp: ENST00000522684.1:c.915A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.915A>C
  hgvsp: ENST00000395218.2:c.915A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1047A>C
  hgvsp: ENST00000519419.1:c.1047A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.915A>C
  hgvsp: ENST00000521059.1:c.915A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.915A>C
  hgvsp: ENST00000535192.1:c.915A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.915A>C
  hgvsp: ENST00000340930.3:c.915A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*547A>C
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser305Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

8-141813717-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813717
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813717
    reference: chr 8
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.931A>T
  hgvsp: ENSP00000429929.1:p.Gln311His
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.900A>T
  hgvsp: ENSP00000341189.3:p.Gln300His
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.338A>T
  hgvsp: ENSP00000429023.1:p.Gln113His
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.900A>T
  hgvsp: ENSP00000438009.1:p.Gln300His
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1032A>T
  hgvsp: ENSP00000429129.1:p.Gln344His
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1032A>T
  hgvsp: ENSP00000429082.1:p.Gln344His
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.900A>T
  hgvsp: ENSP00000429911.1:p.Gln300His
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.900A>T
  hgvsp: ENSP00000378644.2:p.Gln300His
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*532A>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.900A>T
  hgvsp: ENSP00000429474.1:p.Gln300His
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln300His
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

8-141813728-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813728
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813728
    reference: chr 8
allele count: 4
allele frequency: 3.296250515039143e-5
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.920A>G
  hgvsp: ENSP00000429929.1:p.Thr308Ala
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1021A>G
  hgvsp: ENSP00000429082.1:p.Thr341Ala
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.889A>G
  hgvsp: ENSP00000341189.3:p.Thr297Ala
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*521A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.889A>G
  hgvsp: ENSP00000429911.1:p.Thr297Ala
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.327A>G
  hgvsp: ENSP00000429023.1:p.Thr110Ala
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.889A>G
  hgvsp: ENSP00000438009.1:p.Thr297Ala
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.889A>G
  hgvsp: ENSP00000378644.2:p.Thr297Ala
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.889A>G
  hgvsp: ENSP00000429474.1:p.Thr297Ala
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1021A>G
  hgvsp: ENSP00000429129.1:p.Thr341Ala
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr297Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/8-141813734-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813734
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813734
    reference: chr 8
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1015G>T
  hgvsp: ENSP00000429082.1:p.Asp339Tyr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.883G>T
  hgvsp: ENSP00000438009.1:p.Asp295Tyr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.883G>T
  hgvsp: ENSP00000429474.1:p.Asp295Tyr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*515G>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.883G>T
  hgvsp: ENSP00000341189.3:p.Asp295Tyr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.883G>T
  hgvsp: ENSP00000429911.1:p.Asp295Tyr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.321G>T
  hgvsp: ENSP00000429023.1:p.Asp108Tyr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.914G>T
  hgvsp: ENSP00000429929.1:p.Asp306Tyr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1015G>T
  hgvsp: ENSP00000429129.1:p.Asp339Tyr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.883G>T
  hgvsp: ENSP00000378644.2:p.Asp295Tyr
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp295Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

8-141813753-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813753
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813752
    reference: chr 8
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1000-5delT
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.868-5delT
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.306-5delT
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.868-5delT
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*500-5delT
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.899-5delT
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.868-5delT
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.868-5delT
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.868-5delT
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1000-5delT
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
hgvs: c.868-5delT
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TA
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD

8-141813764-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813764
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813764
    reference: chr 8
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.899-15C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*500-15C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1000-15C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.868-15C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1000-15C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.868-15C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.868-15C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.868-15C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.868-15C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.306-15C>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

8-141813775-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813775
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813775
    reference: chr 8
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.868-26A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.868-26A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.868-26A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1000-26A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.868-26A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.868-26A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.899-26A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1000-26A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.306-26A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*500-26A>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

8-141813781-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813781
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813781
    reference: chr 8
allele count: 5
allele frequency: 4.159526146781358e-5
allele num: 120206
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.868-32T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*500-32T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.868-32T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1000-32T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1000-32T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.306-32T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.868-32T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.868-32T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.899-32T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.868-32T>C
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

8-141813782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813782
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813782
    reference: chr 8
allele count: 187
allele frequency: 1.556854321727692e-3
allele num: 120114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1000-33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.868-33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.306-33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.868-33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.868-33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.899-33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.868-33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1000-33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.868-33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*500-33G>A
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 18280
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 3.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13053
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

8-141813783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813783
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813783
    reference: chr 8
allele count: 10
allele frequency: 8.331250520703157e-5
allele num: 120030
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.868-34C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.868-34C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.306-34C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*500-34C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.868-34C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.868-34C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1000-34C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1000-34C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.899-34C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.868-34C>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17880
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13004
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-141813784-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813784
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813784
    reference: chr 8
allele count: 1
allele frequency: 8.329723786359244e-6
allele num: 120052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.868-35C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.868-35C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1000-35C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.306-35C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1000-35C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.868-35C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.868-35C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.868-35C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*500-35C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.899-35C>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24116
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-141813796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813796
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813796
    reference: chr 8
allele count: 1
allele frequency: 8.378577652657685e-6
allele num: 119352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*500-47T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.868-47T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.868-47T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.868-47T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1000-47T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1000-47T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.868-47T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.899-47T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.306-47T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.868-47T>C
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16710
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

8-141813797-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141813797
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141813797
    reference: chr 8
allele count: 1
allele frequency: 8.398703240219711e-6
allele num: 119066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.868-48A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.306-48A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.868-48A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.868-48A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.868-48A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.899-48A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.1000-48A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.868-48A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*500-48A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.1000-48A>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4846
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/8-141828327-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828327
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828327
    reference: chr 8
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.867+49T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.867+49T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.867+49T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.999+49T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.999+49T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.305+49T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.867+49T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.898+49T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*499+49T>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.867+49T>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13754
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

8-141828343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828343
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828343
    reference: chr 8
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.867+33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.305+33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.867+33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.867+33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.898+33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.867+33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.999+33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.867+33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.999+33G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*499+33G>A
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/8-141828352-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828352
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828352
    reference: chr 8
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*499+24G>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.867+24G>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.305+24G>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.867+24G>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.867+24G>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.898+24G>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.867+24G>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.999+24G>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.999+24G>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.867+24G>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-141828354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828354
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828354
    reference: chr 8
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.867+22G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.867+22G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.867+22G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.867+22G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.898+22G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.867+22G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.305+22G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.999+22G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.999+22G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*499+22G>A
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

8-141828355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828355
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828355
    reference: chr 8
allele count: 4
allele frequency: 3.297826732183491e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*499+21C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.867+21C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.305+21C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.898+21C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.867+21C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.867+21C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.999+21C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.867+21C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.999+21C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.867+21C>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

8-141828356-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828356
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828356
    reference: chr 8
allele count: 6
allele frequency: 4.946169191960826e-5
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*499+20T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.867+20T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.305+20T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.867+20T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.867+20T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.867+20T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.999+20T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.867+20T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.898+20T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.999+20T>C
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

8-141828362-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828362
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828362
    reference: chr 8
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.999+14G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.867+14G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.867+14G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.867+14G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.898+14G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.305+14G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.867+14G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.999+14G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.867+14G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*499+14G>A
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

8-141828365-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828365
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828365
    reference: chr 8
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.867+11T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.305+11T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.867+11T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.898+11T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.867+11T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.867+11T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.999+11T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.999+11T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.867+11T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*499+11T>C
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

8-141828366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828366
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828366
    reference: chr 8
allele count: 3
allele frequency: 2.472350876036327e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.867+10C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.999+10C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.867+10C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.867+10C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.999+10C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.305+10C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.867+10C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.867+10C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*499+10C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.898+10C>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

8-141828376-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828376
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828376
    reference: chr 8
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.867T>C
  hgvsp: ENST00000521059.1:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.867T>C
  hgvsp: ENST00000395218.2:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.867T>C
  hgvsp: ENST00000535192.1:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.867T>C
  hgvsp: ENST00000522684.1:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.999T>C
  hgvsp: ENST00000519419.1:c.999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.867T>C
  hgvsp: ENST00000340930.3:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*499T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.305T>C
  hgvsp: ENST00000524202.1:c.305T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.898T>C
  hgvsp: ENST00000519654.1:c.898T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.999T>C
  hgvsp: ENST00000517887.1:c.999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.867T>C
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

8-141828377-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828377
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828377
    reference: chr 8
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.866A>G
  hgvsp: ENSP00000429474.1:p.Asn289Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.866A>G
  hgvsp: ENSP00000438009.1:p.Asn289Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.998A>G
  hgvsp: ENSP00000429082.1:p.Asn333Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.866A>G
  hgvsp: ENSP00000341189.3:p.Asn289Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*498A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.304A>G
  hgvsp: ENSP00000429023.1:p.Asn102Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.998A>G
  hgvsp: ENSP00000429129.1:p.Asn333Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.897A>G
  hgvsp: ENSP00000429929.1:p.Asn300Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.866A>G
  hgvsp: ENSP00000429911.1:p.Asn289Ser
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.866A>G
  hgvsp: ENSP00000378644.2:p.Asn289Ser
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn289Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

8-141828388-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828388
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828388
    reference: chr 8
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.987C>T
  hgvsp: ENST00000517887.1:c.987C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.855C>T
  hgvsp: ENST00000521059.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.987C>T
  hgvsp: ENST00000519419.1:c.987C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*487C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.855C>T
  hgvsp: ENST00000522684.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.855C>T
  hgvsp: ENST00000395218.2:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.855C>T
  hgvsp: ENST00000340930.3:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.855C>T
  hgvsp: ENST00000535192.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.886C>T
  hgvsp: ENST00000519654.1:c.886C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.293C>T
  hgvsp: ENST00000524202.1:c.293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp285Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

8-141828392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828392
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828392
    reference: chr 8
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.882C>T
  hgvsp: ENSP00000429929.1:p.Thr295Met
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.851C>T
  hgvsp: ENSP00000341189.3:p.Thr284Met
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.851C>T
  hgvsp: ENSP00000438009.1:p.Thr284Met
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.289C>T
  hgvsp: ENSP00000429023.1:p.Thr97Met
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.983C>T
  hgvsp: ENSP00000429129.1:p.Thr328Met
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.983C>T
  hgvsp: ENSP00000429082.1:p.Thr328Met
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.851C>T
  hgvsp: ENSP00000429474.1:p.Thr284Met
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.851C>T
  hgvsp: ENSP00000429911.1:p.Thr284Met
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.851C>T
  hgvsp: ENSP00000378644.2:p.Thr284Met
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*483C>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr284Met
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

8-141828396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828396
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828396
    reference: chr 8
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.979C>T
  hgvsp: ENST00000519419.1:c.979C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.979C>T
  hgvsp: ENST00000517887.1:c.979C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.847C>T
  hgvsp: ENST00000340930.3:c.847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.285C>T
  hgvsp: ENST00000524202.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.847C>T
  hgvsp: ENST00000535192.1:c.847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.847C>T
  hgvsp: ENST00000395218.2:c.847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.847C>T
  hgvsp: ENST00000521059.1:c.847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.847C>T
  hgvsp: ENST00000522684.1:c.847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.878C>T
  hgvsp: ENST00000519654.1:c.878C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*479C>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu283Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

8-141828407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828407
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828407
    reference: chr 8
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.836G>A
  hgvsp: ENSP00000341189.3:p.Gly279Glu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*468G>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.836G>A
  hgvsp: ENSP00000429911.1:p.Gly279Glu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.968G>A
  hgvsp: ENSP00000429082.1:p.Gly323Glu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.836G>A
  hgvsp: ENSP00000438009.1:p.Gly279Glu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.836G>A
  hgvsp: ENSP00000378644.2:p.Gly279Glu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.968G>A
  hgvsp: ENSP00000429129.1:p.Gly323Glu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.867G>A
  hgvsp: ENSP00000429929.1:p.Gly290Glu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.836G>A
  hgvsp: ENSP00000429474.1:p.Gly279Glu
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.274G>A
  hgvsp: ENSP00000429023.1:p.Gly92Glu
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly279Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

8-141828421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828421
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828421
    reference: chr 8
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.822C>T
  hgvsp: ENST00000521059.1:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.260C>T
  hgvsp: ENST00000524202.1:c.260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.954C>T
  hgvsp: ENST00000517887.1:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.822C>T
  hgvsp: ENST00000395218.2:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.822C>T
  hgvsp: ENST00000535192.1:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.822C>T
  hgvsp: ENST00000522684.1:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.853C>T
  hgvsp: ENST00000519654.1:c.853C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.954C>T
  hgvsp: ENST00000519419.1:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.822C>T
  hgvsp: ENST00000340930.3:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*454C>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile274Ile
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

8-141828421-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828421
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828421
    reference: chr 8
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.822C>A
  hgvsp: ENST00000395218.2:c.822C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.822C>A
  hgvsp: ENST00000340930.3:c.822C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.822C>A
  hgvsp: ENST00000521059.1:c.822C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.954C>A
  hgvsp: ENST00000517887.1:c.954C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.822C>A
  hgvsp: ENST00000522684.1:c.822C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.954C>A
  hgvsp: ENST00000519419.1:c.954C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.822C>A
  hgvsp: ENST00000535192.1:c.822C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.260C>A
  hgvsp: ENST00000524202.1:c.260C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*454C>A
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.853C>A
  hgvsp: ENST00000519654.1:c.853C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile274Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

8-141828423-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828423
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828423
    reference: chr 8
allele count: 3
allele frequency: 2.471821237888076e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.952A>G
  hgvsp: ENSP00000429082.1:p.Ile318Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.820A>G
  hgvsp: ENSP00000341189.3:p.Ile274Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.820A>G
  hgvsp: ENSP00000438009.1:p.Ile274Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.851A>G
  hgvsp: ENSP00000429929.1:p.Ile285Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.820A>G
  hgvsp: ENSP00000378644.2:p.Ile274Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.820A>G
  hgvsp: ENSP00000429911.1:p.Ile274Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.820A>G
  hgvsp: ENSP00000429474.1:p.Ile274Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.952A>G
  hgvsp: ENSP00000429129.1:p.Ile318Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*452A>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.258A>G
  hgvsp: ENSP00000429023.1:p.Ile87Val
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile274Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

8-141828429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828429
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828429
    reference: chr 8
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.845C>T
  hgvsp: ENST00000519654.1:c.845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.814C>T
  hgvsp: ENST00000395218.2:c.814C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*446C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.946C>T
  hgvsp: ENST00000517887.1:c.946C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.814C>T
  hgvsp: ENST00000522684.1:c.814C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.814C>T
  hgvsp: ENST00000535192.1:c.814C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.814C>T
  hgvsp: ENST00000340930.3:c.814C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.946C>T
  hgvsp: ENST00000519419.1:c.946C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.814C>T
  hgvsp: ENST00000521059.1:c.814C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.252C>T
  hgvsp: ENST00000524202.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu272Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

8-141828440-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828440
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828440
    reference: chr 8
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.241T>C
  hgvsp: ENSP00000429023.1:p.Ile81Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.834T>C
  hgvsp: ENSP00000429929.1:p.Ile279Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.803T>C
  hgvsp: ENSP00000438009.1:p.Ile268Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.803T>C
  hgvsp: ENSP00000429474.1:p.Ile268Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.935T>C
  hgvsp: ENSP00000429082.1:p.Ile312Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*435T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.803T>C
  hgvsp: ENSP00000429911.1:p.Ile268Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.935T>C
  hgvsp: ENSP00000429129.1:p.Ile312Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.803T>C
  hgvsp: ENSP00000378644.2:p.Ile268Thr
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.803T>C
  hgvsp: ENSP00000341189.3:p.Ile268Thr
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile268Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

8-141828444-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828444
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828444
    reference: chr 8
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.237A>G
  hgvsp: ENSP00000429023.1:p.Ile80Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.799A>G
  hgvsp: ENSP00000341189.3:p.Ile267Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.799A>G
  hgvsp: ENSP00000429911.1:p.Ile267Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.799A>G
  hgvsp: ENSP00000429474.1:p.Ile267Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.931A>G
  hgvsp: ENSP00000429082.1:p.Ile311Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.799A>G
  hgvsp: ENSP00000378644.2:p.Ile267Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.799A>G
  hgvsp: ENSP00000438009.1:p.Ile267Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.830A>G
  hgvsp: ENSP00000429929.1:p.Ile278Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.931A>G
  hgvsp: ENSP00000429129.1:p.Ile311Val
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*431A>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile267Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-141828459-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828459
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828459
    reference: chr 8
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.228-6C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.790-6C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.922-6C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.790-6C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.790-6C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.821-6C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.922-6C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.790-6C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.790-6C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*422-6C>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19734
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3896
  bin: 7.75e1
  variant carriers: 0
hgvs: c.790-6C>G
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

10-72358768-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72358768
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 72358768
    reference: chr 10
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180644
  ensembl protein: ENSP00000398568
  ensembl transcript: ENST00000441259
  gene symbol: PRF1
  hgvsc: ENST00000441259.1:c.709A>G
  hgvsp: ENSP00000398568.1:p.Thr237Ala
  variant of: http://identifiers.org/hgnc/9360
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180644
  ensembl protein: ENSP00000362305
  ensembl transcript: ENST00000373209
  gene symbol: PRF1
  hgvsc: ENST00000373209.2:c.709A>G
  hgvsp: ENSP00000362305.1:p.Thr237Ala
  variant of: http://identifiers.org/hgnc/9360
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 286
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 308
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 39247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 271
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genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 9932
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr237Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

10-72358773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72358773
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 72358773
    reference: chr 10
allele count: 10
allele frequency: 8.254911672445105e-5
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180644
  ensembl protein: ENSP00000398568
  ensembl transcript: ENST00000441259
  gene symbol: PRF1
  hgvsc: ENST00000441259.1:c.704C>T
  hgvsp: ENSP00000398568.1:p.Ala235Val
  variant of: http://identifiers.org/hgnc/9360
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180644
  ensembl protein: ENSP00000362305
  ensembl transcript: ENST00000373209
  gene symbol: PRF1
  hgvsc: ENST00000373209.2:c.704C>T
  hgvsp: ENSP00000362305.1:p.Ala235Val
  variant of: http://identifiers.org/hgnc/9360
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9890
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14470
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9839
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
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genotype quality: GenotypeQuality
  all individuals: 1863
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  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 701
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genotype quality: GenotypeQuality
  all individuals: 2773
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genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
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  variant carriers: 0
hgvs: p.Ala235Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16500
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

10-72358775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72358775
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 72358775
    reference: chr 10
allele count: 345
allele frequency: 2.848320729170107e-3
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180644
  ensembl protein: ENSP00000362305
  ensembl transcript: ENST00000373209
  gene symbol: PRF1
  hgvsc: ENST00000373209.2:c.702G>A
  hgvsp: ENST00000373209.2:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9360
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180644
  ensembl protein: ENSP00000398568
  ensembl transcript: ENST00000441259
  gene symbol: PRF1
  hgvsc: ENST00000441259.1:c.702G>A
  hgvsp: ENST00000441259.1:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9360
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 29320
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 457
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14421
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 65
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  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 190
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genotype quality: GenotypeQuality
  all individuals: 187
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2741
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2871
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genotype quality: GenotypeQuality
  all individuals: 38995
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1937
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9800
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser234Ser
num of homozygotes: 6
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8640
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

8-141828462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828462
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828462
    reference: chr 8
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.790-9C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.790-9C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.228-9C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*422-9C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.790-9C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.790-9C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.922-9C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.821-9C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.790-9C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.922-9C>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

8-141828470-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828470
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828470
    reference: chr 8
allele count: 8
allele frequency: 6.602185323342026e-5
allele num: 121172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.790-17T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.821-17T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.790-17T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.790-17T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.922-17T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.790-17T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.922-17T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.790-17T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.228-17T>C
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*422-17T>C
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-141828472-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828472
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828472
    reference: chr 8
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.790-19C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.228-19C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.922-19C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*422-19C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.790-19C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.790-19C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.922-19C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.790-19C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.790-19C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.821-19C>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

8-141828481-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828481
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828481
    reference: chr 8
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.790-28C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.790-28C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.790-28C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.228-28C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.922-28C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*422-28C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.790-28C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.821-28C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.922-28C>G
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.790-28C>G
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

8-141828483-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141828483
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 141828483
    reference: chr 8
allele count: 2
allele frequency: 1.655108492361674e-5
allele num: 120838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429023
  ensembl transcript: ENST00000524202
  gene symbol: PTK2
  hgvsc: ENST00000524202.1:c.228-30C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429129
  ensembl transcript: ENST00000519419
  gene symbol: PTK2
  hgvsc: ENST00000519419.1:c.922-30C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000378644
  ensembl transcript: ENST00000395218
  gene symbol: PTK2
  hgvsc: ENST00000395218.2:c.790-30C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429474
  ensembl transcript: ENST00000521059
  gene symbol: PTK2
  hgvsc: ENST00000521059.1:c.790-30C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429911
  ensembl transcript: ENST00000522684
  gene symbol: PTK2
  hgvsc: ENST00000522684.1:c.790-30C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000341189
  ensembl transcript: ENST00000340930
  gene symbol: PTK2
  hgvsc: ENST00000340930.3:c.790-30C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429082
  ensembl transcript: ENST00000517887
  gene symbol: PTK2
  hgvsc: ENST00000517887.1:c.922-30C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000429929
  ensembl transcript: ENST00000519654
  gene symbol: PTK2
  hgvsc: ENST00000519654.1:c.821-30C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000428570
  ensembl transcript: ENST00000519993
  gene symbol: PTK2
  hgvsc: ENST00000519993.1:c.*422-30C>T
  variant of: http://identifiers.org/hgnc/9611
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169398
  ensembl protein: ENSP00000438009
  ensembl transcript: ENST00000535192
  gene symbol: PTK2
  hgvsc: ENST00000535192.1:c.790-30C>T
  variant of: http://identifiers.org/hgnc/9611
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18586
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3043
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37881
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.957328385899814e-4
allele num: 8624
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

DP
type: SiteQuality
SIO_000300: 2.980545e6

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.74e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37883
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3300
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5407
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1901
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3043
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.979855e6

FS
type: SiteQuality
SIO_000300: 1.176e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.236e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

GenotypeQuality
all individuals: 1892
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5236
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37881
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3183
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003724618526973e-5
allele num: 66584
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: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.713e0

QD
type: SiteQuality
SIO_000300: 1.071e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 1.809e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.977234e6

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

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37881
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3254
bin: 6.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506669871409686e-5
allele num: 66568
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: 3.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

DP
type: SiteQuality
SIO_000300: 2.976967e6

FS
type: SiteQuality
SIO_000300: 3.904e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 304
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37879
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.424830261881668e-4
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.849e0

MQ
type: SiteQuality
SIO_000300: 5.194e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

FS
type: SiteQuality
SIO_000300: 1.5157e1

VQSLOD
type: SiteQuality
SIO_000300: -8.725000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.966696e6

QD
type: SiteQuality
SIO_000300: 6.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

GenotypeQuality
all individuals: 307
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 194
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37875
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3150
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.894635275955229e-4
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007337904486948e-5
allele num: 66504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.964738e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.517e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

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

GenotypeQuality
all individuals: 4275
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3145
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2972
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37870
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
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: 66478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 2.961285e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.317e0

VQSLOD
type: SiteQuality
SIO_000300: -8.278e-1

GenotypeQuality
all individuals: 204
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 9.25e1
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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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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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.522190461862494e-5
allele num: 66470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.959195e6

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

FS
type: SiteQuality
SIO_000300: 7.81e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.334e1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

QD
type: SiteQuality
SIO_000300: 9.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 6.232e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 2.957041e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.64e-1

DP
type: SiteQuality
SIO_000300: 2.949934e6

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

GenotypeQuality
all individuals: 3183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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
all individuals: 2003
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variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.994423457456377e-5
allele num: 11118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64460
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.937641e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.262e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.507e1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.554e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.805844283192783e-5
allele num: 10198
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64580
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.948093e6

QD
type: SiteQuality
SIO_000300: 1.317e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.429e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64818
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.152331733727083e-5
allele num: 16254
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.609e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 2.135e0

VQSLOD
type: SiteQuality
SIO_000300: -1.029e0

DP
type: SiteQuality
SIO_000300: 1.984972e6

MQ
type: SiteQuality
SIO_000300: 5.901e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1983
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526065193505067e-5
allele num: 65528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.668e1

FS
type: SiteQuality
SIO_000300: 3.358e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 42

GenotypeQuality
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GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.58709833293066e-4
allele num: 66224
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European (Finnish)
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allele frequency: 3.031221582297666e-4
allele num: 6598
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 2.897990726429675e-4
allele num: 10352
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Other
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Latino
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ReadPosRankSum
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SIO_000300: 5.05e-1

FS
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BaseQRankSum
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DP
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MQRankSum
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SIO_000300: 2.76e-1

ClippingRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

Latino
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allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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Other
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InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.46e-1

DP
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

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

European (Non-Finnish)
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allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

South Asian
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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East Asian
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African
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European (Finnish)
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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DP
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QD
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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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South Asian
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African
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East Asian
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European (Finnish)
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Other
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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FS
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MQ
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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Other
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South Asian
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Latino
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European (Non-Finnish)
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QD
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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European (Finnish)
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African
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Other
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MQRankSum
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DP
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ClippingRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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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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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
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: 66652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.058e1

DP
type: SiteQuality
SIO_000300: 2.078518e6

FS
type: SiteQuality
SIO_000300: 3.728e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

GenotypeQuality
all individuals: 5762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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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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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2688
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.149e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.34e-2

DP
type: SiteQuality
SIO_000300: 2.078688e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

QD
type: SiteQuality
SIO_000300: 8.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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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: 1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.081065e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.779e0

FS
type: SiteQuality
SIO_000300: 1.1247e1

VQSLOD
type: SiteQuality
SIO_000300: -1.259e0

QD
type: SiteQuality
SIO_000300: 1.394e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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: 10406
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.466e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.08135e6

VQSLOD
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.094e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 20

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 20
allele frequency: 1.731601731601732e-3
allele num: 11550
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: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 2.082752e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
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VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

DP
type: SiteQuality
SIO_000300: 2.081456e6

ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
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MQ
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BaseQRankSum
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QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.208e0

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

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

African
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allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

Other
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.91e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.232e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

VQSLOD
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ReadPosRankSum
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

South Asian
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BaseQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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VQSLOD
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SIO_000300: -4.664e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.277e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

FS
type: SiteQuality
SIO_000300: 6.414e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.081216e6

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
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: 0
allele frequency: 0.0e0
allele num: 10402
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: 6612
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 2.078448e6

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 1.232e0

QD
type: SiteQuality
SIO_000300: 7.08e0

GenotypeQuality
all individuals: 2666
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1295
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 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: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084205402774397e-5
allele num: 16436
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

FS
type: SiteQuality
SIO_000300: 1.941e0

QD
type: SiteQuality
SIO_000300: 1.322e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.143e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.069768e6

GenotypeQuality
all individuals: 1059
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.35e-2

QD
type: SiteQuality
SIO_000300: 1.264e1

DP
type: SiteQuality
SIO_000300: 2.029486e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.191e0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.569793496033428e-5
allele num: 66052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.19e-1

QD
type: SiteQuality
SIO_000300: 1.732e1

DP
type: SiteQuality
SIO_000300: 1.997626e6

GenotypeQuality
all individuals: 919
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 188

GenotypeQuality
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GenotypeQuality
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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: 1960
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variant carriers: 0

GenotypeQuality
all individuals: 544
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variant carriers: 0

GenotypeQuality
all individuals: 1909
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 15
allele frequency: 1.311418080083931e-3
allele num: 11438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.061524473405061e-5
allele num: 65990
num of homozygotes: 0

African
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allele count: 165
allele frequency: 1.595436085863469e-2
allele num: 10342
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: 3
allele frequency: 3.333333333333334e-3
allele num: 900
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.454e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.999324e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

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

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

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

East Asian
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allele count: 6
allele frequency: 7.095553453169347e-4
allele num: 8456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65938
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.833516685001834e-4
allele num: 16362
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 1.221e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.083e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516070345664039e-5
allele num: 65960
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.986963e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
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MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65504
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.781173164734808e-5
allele num: 11388
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
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
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.388e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.412e0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

QD
type: SiteQuality
SIO_000300: 2.124e1

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 1.944194e6

GenotypeQuality
all individuals: 1839
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9831
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2556
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4307
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531205977828137e-5
allele num: 65308
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.427e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.87e0

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 6.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 1.94276e6

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

GenotypeQuality
all individuals: 1060
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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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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: 7605
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variant carriers: 1

GenotypeQuality
all individuals: 1264
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

FS
type: SiteQuality
SIO_000300: 3.274e0

DP
type: SiteQuality
SIO_000300: 2.05831e6

QD
type: SiteQuality
SIO_000300: 1.648e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.121e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7587
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2995
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 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: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

DP
type: SiteQuality
SIO_000300: 2.078517e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.14e-1

QD
type: SiteQuality
SIO_000300: 1.652e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1196
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
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

QD
type: SiteQuality
SIO_000300: 1.458e1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: -1.333e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 2.084567e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.227e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.796e0

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

GenotypeQuality
all individuals: 3
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3928
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.103e0

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

DP
type: SiteQuality
SIO_000300: 2.085797e6

QD
type: SiteQuality
SIO_000300: 1.312e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.013e0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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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: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.819063788503517e-4
allele num: 16492
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 5.873e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.98e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

QD
type: SiteQuality
SIO_000300: 1.316e1

DP
type: SiteQuality
SIO_000300: 2.085846e6

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

GenotypeQuality
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bin: 7.5e0
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.997390756680563e-5
allele num: 66686
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

DP
type: SiteQuality
SIO_000300: 2.085931e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.454e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 15
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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: 58
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GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2
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variant carriers: 0

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

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

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

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

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: 908
num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: -1.257e0

MQRankSum
type: SiteQuality
SIO_000300: -1.305e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.471e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 1.654e0

QD
type: SiteQuality
SIO_000300: 5.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.99e-2

MQ
type: SiteQuality
SIO_000300: 5.886e1

VQSLOD
type: SiteQuality
SIO_000300: -3.472e0

DP
type: SiteQuality
SIO_000300: 2.086666e6

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 1.15e0

MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

VQSLOD
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SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.66e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

BaseQRankSum
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SIO_000300: 3.89e0

DP
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SIO_000300: 2.08698e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.497616263380409e-5
allele num: 66702
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

MQRankSum
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 6.04e0

ReadPosRankSum
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SIO_000300: 1.79e0

BaseQRankSum
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SIO_000300: -3.161e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.37e-1

DP
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SIO_000300: 2.087183e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -1.864e0

QD
type: SiteQuality
SIO_000300: 1.366e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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MQRankSum
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SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.52e-1

QD
type: SiteQuality
SIO_000300: 1.1e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

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: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

African
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allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

VQSLOD
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DP
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.65e0

FS
type: SiteQuality
SIO_000300: 3.937e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

Other
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East Asian
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African
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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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Latino
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num of homozygotes: 0

MQ
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SIO_000300: 5.963e1

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

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
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East Asian
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African
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South Asian
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European (Non-Finnish)
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allele num: 66716
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European (Finnish)
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InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: 7.29e-1

ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 5.1e-1

FS
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SIO_000300: 4.209e0

QD
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VQSLOD
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SIO_000300: -2.233e0

DP
type: SiteQuality
SIO_000300: 2.088229e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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variant carriers: 2

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
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Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
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MQRankSum
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele num: 10402
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Latino
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East 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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QD
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

Other
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele num: 16508
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MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 2.778e0

BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 2.088167e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

Other
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South Asian
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FS
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SIO_000300: 0.0e0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499250374812594e-5
allele num: 66700
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African
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ReadPosRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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FS
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InbreedingCoeff
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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African
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66692
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Other
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South Asian
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VQSLOD
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QD
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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Other
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East Asian
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African
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
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European (Finnish)
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BaseQRankSum
type: SiteQuality
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MQRankSum
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QD
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ReadPosRankSum
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FS
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DP
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MQ
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VQSLOD
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SIO_000300: 4.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 4.605e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.061e1

DP
type: SiteQuality
SIO_000300: 1.746163e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.229e0

VQSLOD
type: SiteQuality
SIO_000300: 5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.427e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.501231009427731e-4
allele num: 66612
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.742076e6

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.959e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 5.49e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.503963487869325e-5
allele num: 66608
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.652015919709292e-4
allele num: 11558
num of homozygotes: 0

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

African
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allele count: 332
allele frequency: 3.199074966274812e-2
allele num: 10378
num of homozygotes: 6

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

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.485e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.47e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

DP
type: SiteQuality
SIO_000300: 1.740147e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.61e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7570
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.083658e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

QD
type: SiteQuality
SIO_000300: 1.478e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.464e0

MQRankSum
type: SiteQuality
SIO_000300: -1.32e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.65e-1

FS
type: SiteQuality
SIO_000300: 1.179e0

GenotypeQuality
all individuals: 408
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7573
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3878
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.850836769342711e-4
allele num: 16492
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.318e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

FS
type: SiteQuality
SIO_000300: 2.742e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

DP
type: SiteQuality
SIO_000300: 2.080765e6

GenotypeQuality
all individuals: 2958
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9161
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.3518e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

DP
type: SiteQuality
SIO_000300: 2.080162e6

MQ
type: SiteQuality
SIO_000300: 5.989e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.177e0

QD
type: SiteQuality
SIO_000300: 1.437e1

GenotypeQuality
all individuals: 1131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 406
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
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: 66502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

QD
type: SiteQuality
SIO_000300: 1.474e1

FS
type: SiteQuality
SIO_000300: 6.076e0

DP
type: SiteQuality
SIO_000300: 2.060171e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.867e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
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GenotypeQuality
all individuals: 7564
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
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: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0