6-35838044-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838044
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838044
    reference: chr 6
allele count: 1
allele frequency: 1.009489198465576e-5
allele num: 99060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.205+14A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.943+14A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.1039+14A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1515+14A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.991+14A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-366A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.670+14A>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

6-35838062-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838062
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838062
    reference: chr 6
allele count: 1
allele frequency: 9.379455241239589e-6
allele num: 106616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-384A>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.987A>T
  hgvsp: ENSP00000362931.2:p.Lys329Asn
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.939A>T
  hgvsp: ENSP00000391069.2:p.Lys313Asn
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.1035A>T
  hgvsp: ENSP00000354674.3:p.Lys345Asn
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1511A>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.201A>T
  hgvsp: ENSP00000424170.1:p.Lys67Asn
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.666A>T
  hgvsp: ENSP00000362928.1:p.Lys222Asn
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys329Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

6-35838062-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838062
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838062
    reference: chr 6
allele count: 1
allele frequency: 9.379455241239589e-6
allele num: 106616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1511A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.201A>G
  hgvsp: ENST00000510290.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.1035A>G
  hgvsp: ENST00000361690.3:c.1035A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.666A>G
  hgvsp: ENST00000373822.1:c.666A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.987A>G
  hgvsp: ENST00000373825.2:c.987A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-384A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.939A>G
  hgvsp: ENST00000423325.2:c.939A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys329Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

6-35838072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838072
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838072
    reference: chr 6
allele count: 1
allele frequency: 9.135590433209699e-6
allele num: 109462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.656C>T
  hgvsp: ENSP00000362928.1:p.Thr219Ile
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1501C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.977C>T
  hgvsp: ENSP00000362931.2:p.Thr326Ile
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.1025C>T
  hgvsp: ENSP00000354674.3:p.Thr342Ile
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.191C>T
  hgvsp: ENSP00000424170.1:p.Thr64Ile
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.929C>T
  hgvsp: ENSP00000391069.2:p.Thr310Ile
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-394C>T
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr326Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

6-35838098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838098
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838098
    reference: chr 6
allele count: 3
allele frequency: 2.719805624558032e-5
allele num: 110302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.999G>A
  hgvsp: ENST00000361690.3:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.951G>A
  hgvsp: ENST00000373825.2:c.951G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-420G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.903G>A
  hgvsp: ENST00000423325.2:c.903G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.165G>A
  hgvsp: ENST00000510290.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1475G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.630G>A
  hgvsp: ENST00000373822.1:c.630G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu317Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

6-35838101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838101
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838101
    reference: chr 6
allele count: 1
allele frequency: 9.104814625974215e-6
allele num: 109832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-423C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.996C>T
  hgvsp: ENST00000361690.3:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.627C>T
  hgvsp: ENST00000373822.1:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.948C>T
  hgvsp: ENST00000373825.2:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.162C>T
  hgvsp: ENST00000510290.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.900C>T
  hgvsp: ENST00000423325.2:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1472C>T
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro316Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

6-35838102-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838102
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838102
    reference: chr 6
allele count: 1
allele frequency: 9.116268893467282e-6
allele num: 109694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-424C>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.947C>G
  hgvsp: ENSP00000362931.2:p.Pro316Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.995C>G
  hgvsp: ENSP00000354674.3:p.Pro332Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.899C>G
  hgvsp: ENSP00000391069.2:p.Pro300Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1471C>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.161C>G
  hgvsp: ENSP00000424170.1:p.Pro54Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.626C>G
  hgvsp: ENSP00000362928.1:p.Pro209Arg
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro316Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

6-35838124-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838124
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838124
    reference: chr 6
allele count: 2
allele frequency: 1.987913486005089e-5
allele num: 100608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.973T>A
  hgvsp: ENSP00000354674.3:p.Ser325Thr
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.139T>A
  hgvsp: ENSP00000424170.1:p.Ser47Thr
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1449T>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.925T>A
  hgvsp: ENSP00000362931.2:p.Ser309Thr
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.877T>A
  hgvsp: ENSP00000391069.2:p.Ser293Thr
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-446T>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.604T>A
  hgvsp: ENSP00000362928.1:p.Ser202Thr
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24704
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15975
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser309Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

6-35838128-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838128
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838128
    reference: chr 6
allele count: 2
allele frequency: 2.059689810714506e-5
allele num: 97102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.600A>G
  hgvsp: ENST00000373822.1:c.600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.873A>G
  hgvsp: ENST00000423325.2:c.873A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-450A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1445A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.921A>G
  hgvsp: ENST00000373825.2:c.921A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.135A>G
  hgvsp: ENST00000510290.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.969A>G
  hgvsp: ENST00000361690.3:c.969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21273
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu307Glu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

6-35838139-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838139
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838139
    reference: chr 6
allele count: 1
allele frequency: 1.152764328860608e-5
allele num: 86748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.958A>G
  hgvsp: ENSP00000354674.3:p.Asn320Asp
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.910A>G
  hgvsp: ENSP00000362931.2:p.Asn304Asp
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.862A>G
  hgvsp: ENSP00000391069.2:p.Asn288Asp
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-461A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1434A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.589A>G
  hgvsp: ENSP00000362928.1:p.Asn197Asp
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.124A>G
  hgvsp: ENSP00000424170.1:p.Asn42Asp
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn304Asp
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

6-35838141-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838141
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838141
    reference: chr 6
allele count: 2
allele frequency: 2.313583046063438e-5
allele num: 86446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.860C>G
  hgvsp: ENSP00000391069.2:p.Pro287Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-463C>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.908C>G
  hgvsp: ENSP00000362931.2:p.Pro303Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.956C>G
  hgvsp: ENSP00000354674.3:p.Pro319Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.122C>G
  hgvsp: ENSP00000424170.1:p.Pro41Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.587C>G
  hgvsp: ENSP00000362928.1:p.Pro196Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1432C>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro303Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

6-35838143-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838143
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838143
    reference: chr 6
allele count: 1
allele frequency: 1.166126361452527e-5
allele num: 85754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-465A>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.906A>T
  hgvsp: ENSP00000362931.2:p.Arg302Ser
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1430A>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.120A>T
  hgvsp: ENSP00000424170.1:p.Arg40Ser
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.954A>T
  hgvsp: ENSP00000354674.3:p.Arg318Ser
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.585A>T
  hgvsp: ENSP00000362928.1:p.Arg195Ser
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.858A>T
  hgvsp: ENSP00000391069.2:p.Arg286Ser
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17892
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg302Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

6-35838156-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838156
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838156
    reference: chr 6
allele count: 2
allele frequency: 2.801120448179272e-5
allele num: 71400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.107C>A
  hgvsp: ENSP00000424170.1:p.Pro36His
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1417C>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.845C>A
  hgvsp: ENSP00000391069.2:p.Pro282His
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-478C>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.893C>A
  hgvsp: ENSP00000362931.2:p.Pro298His
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.941C>A
  hgvsp: ENSP00000354674.3:p.Pro314His
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.572C>A
  hgvsp: ENSP00000362928.1:p.Pro191His
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4407
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro298His
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

6-35838160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838160
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838160
    reference: chr 6
allele count: 10
allele frequency: 1.488626890556151e-4
allele num: 67176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.937G>A
  hgvsp: ENSP00000354674.3:p.Gly313Ser
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1413G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.103G>A
  hgvsp: ENSP00000424170.1:p.Gly35Ser
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.568G>A
  hgvsp: ENSP00000362928.1:p.Gly190Ser
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.889G>A
  hgvsp: ENSP00000362931.2:p.Gly297Ser
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.841G>A
  hgvsp: ENSP00000391069.2:p.Gly281Ser
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-482G>A
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14973
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly297Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

6-35838160-CCGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838160
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838157
    reference: chr 6
allele count: 1
allele frequency: 1.488626890556151e-5
allele num: 67176
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.886_888delTCG
  hgvsp: ENSP00000362931.2:p.Ser296del
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.100_102delTCG
  hgvsp: ENSP00000424170.1:p.Ser34del
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.565_567delTCG
  hgvsp: ENSP00000362928.1:p.Ser189del
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.838_840delTCG
  hgvsp: ENSP00000391069.2:p.Ser280del
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.934_936delTCG
  hgvsp: ENSP00000354674.3:p.Ser312del
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-485_58-483delTCG
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1410_1412delTCG
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5657
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser296del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: CCGA
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

6-35838162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838162
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838162
    reference: chr 6
allele count: 2
allele frequency: 3.076449776957391e-5
allele num: 65010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.839C>T
  hgvsp: ENSP00000391069.2:p.Ser280Leu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.566C>T
  hgvsp: ENSP00000362928.1:p.Ser189Leu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1411C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.101C>T
  hgvsp: ENSP00000424170.1:p.Ser34Leu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.887C>T
  hgvsp: ENSP00000362931.2:p.Ser296Leu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.935C>T
  hgvsp: ENSP00000354674.3:p.Ser312Leu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-484C>T
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14768
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6080
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser296Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

6-35838166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838166
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838166
    reference: chr 6
allele count: 2
allele frequency: 3.195398625978591e-5
allele num: 62590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.97G>A
  hgvsp: ENSP00000424170.1:p.Glu33Lys
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-488G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.835G>A
  hgvsp: ENSP00000391069.2:p.Glu279Lys
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.931G>A
  hgvsp: ENSP00000354674.3:p.Glu311Lys
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.562G>A
  hgvsp: ENSP00000362928.1:p.Glu188Lys
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1407G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.883G>A
  hgvsp: ENSP00000362931.2:p.Glu295Lys
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14292
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21385
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Glu295Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

6-35838167-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838167
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838167
    reference: chr 6
allele count: 2
allele frequency: 3.307097030226867e-5
allele num: 60476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.58-489A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.561A>G
  hgvsp: ENST00000373822.1:c.561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1406A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.930A>G
  hgvsp: ENST00000361690.3:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.834A>G
  hgvsp: ENST00000423325.2:c.834A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.882A>G
  hgvsp: ENST00000373825.2:c.882A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.96A>G
  hgvsp: ENST00000510290.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21319
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29520
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys294Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

6-35838195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838195
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838195
    reference: chr 6
allele count: 2
allele frequency: 5.043373007867662e-5
allele num: 39656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.533G>A
  hgvsp: ENSP00000362928.1:p.Arg178Gln
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.806G>A
  hgvsp: ENSP00000391069.2:p.Arg269Gln
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.68G>A
  hgvsp: ENSP00000424170.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1378G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.902G>A
  hgvsp: ENSP00000354674.3:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.854G>A
  hgvsp: ENSP00000362931.2:p.Arg285Gln
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+516G>A
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg285Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

6-35838219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838219
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838219
    reference: chr 6
allele count: 2
allele frequency: 6.815238874122537e-5
allele num: 29346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+492G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.782G>A
  hgvsp: ENSP00000391069.2:p.Arg261His
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.509G>A
  hgvsp: ENSP00000362928.1:p.Arg170His
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.878G>A
  hgvsp: ENSP00000354674.3:p.Arg293His
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.830G>A
  hgvsp: ENSP00000362931.2:p.Arg277His
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.44G>A
  hgvsp: ENSP00000424170.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1354G>A
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29971
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Arg277His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

6-35838228-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838228
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838228
    reference: chr 6
allele count: 1
allele frequency: 3.804595951909907e-5
allele num: 26284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.869A>G
  hgvsp: ENSP00000354674.3:p.Lys290Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.821A>G
  hgvsp: ENSP00000362931.2:p.Lys274Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1345A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.500A>G
  hgvsp: ENSP00000362928.1:p.Lys167Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.773A>G
  hgvsp: ENSP00000391069.2:p.Lys258Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+483A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.35A>G
  hgvsp: ENSP00000424170.1:p.Lys12Arg
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys274Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

6-35838229-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838229
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838229
    reference: chr 6
allele count: 3
allele frequency: 1.157764742204384e-4
allele num: 25912
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.820A>C
  hgvsp: ENSP00000362931.2:p.Lys274Gln
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.34A>C
  hgvsp: ENSP00000424170.1:p.Lys12Gln
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+482A>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.868A>C
  hgvsp: ENSP00000354674.3:p.Lys290Gln
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.772A>C
  hgvsp: ENSP00000391069.2:p.Lys258Gln
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.499A>C
  hgvsp: ENSP00000362928.1:p.Lys167Gln
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1344A>C
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30880
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5795
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys274Gln
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: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/6-35838237-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838237
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838237
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 24552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1336T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+474T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.812T>G
  hgvsp: ENSP00000362931.2:p.Leu271Trp
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.764T>G
  hgvsp: ENSP00000391069.2:p.Leu255Trp
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.26T>G
  hgvsp: ENSP00000424170.1:p.Leu9Trp
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.860T>G
  hgvsp: ENSP00000354674.3:p.Leu287Trp
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.491T>G
  hgvsp: ENSP00000362928.1:p.Leu164Trp
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30169
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29370
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu271Trp
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

6-35838275-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838275
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838275
    reference: chr 6
allele count: 1
allele frequency: 4.425170369059209e-5
allele num: 22598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+436C>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.778-4C>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.826-4C>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1302-4C>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.730-4C>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-9-4C>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.457-4C>A
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15714
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
hgvs: c.778-4C>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

6-35838277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838277
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838277
    reference: chr 6
allele count: 1
allele frequency: 4.431052818149592e-5
allele num: 22568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+434G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.826-6G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-9-6G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1302-6G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.457-6G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.730-6G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.778-6G>A
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
hgvs: c.778-6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

6-35838278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838278
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838278
    reference: chr 6
allele count: 1
allele frequency: 4.438920454545455e-5
allele num: 22528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-9-7C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1302-7C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+433C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.826-7C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.730-7C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.778-7C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.457-7C>T
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
hgvs: c.778-7C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

6-35838667-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838667
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838667
    reference: chr 6
allele count: 4
allele frequency: 3.70899245220036e-5
allele num: 107846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+44A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.729+44A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-10+44A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.777+44A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.825+44A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.456+44A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1301+44A>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12673
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13148
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6019
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7087
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

6-35838670-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838670
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838670
    reference: chr 6
allele count: 2
allele frequency: 1.85411799606927e-5
allele num: 107868
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-10+41A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.729+41A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.456+41A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1301+41A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.825+41A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+41A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.777+41A>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15004
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10830
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5631
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16577
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

6-35838671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838671
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838671
    reference: chr 6
allele count: 1
allele frequency: 9.275749480558029e-6
allele num: 107808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-10+40G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+40G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.777+40G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.825+40G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.456+40G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.729+40G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1301+40G>A
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10214
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17358
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

6-35838674-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838674
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838674
    reference: chr 6
allele count: 1
allele frequency: 9.253090532237768e-6
allele num: 108072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.729+37A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1301+37A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.456+37A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.825+37A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-10+37A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+37A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.777+37A>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-35838682-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838682
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838682
    reference: chr 6
allele count: 1
allele frequency: 9.221519337526051e-6
allele num: 108442
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.777+29T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1301+29T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+29T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.825+29T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-10+29T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.729+29T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.456+29T>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20775
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4350
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

6-35838691-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838691
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838692
    reference: chr 6
allele count: 1
allele frequency: 9.168087720263307e-6
allele num: 109074
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.825+19dupT
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1301+19dupT
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.777+19dupT
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+19dupT
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-10+19dupT
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.456+19dupT
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.729+19dupT
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-35838692-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838692
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838692
    reference: chr 6
allele count: 1
allele frequency: 9.158683347681937e-6
allele num: 109186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+19T>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.777+19T>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.825+19T>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-10+19T>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1301+19T>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.729+19T>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.456+19T>C
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/6-35838698-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838698
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838697
    reference: chr 6
allele count: 1
allele frequency: 9.104151493080844e-6
allele num: 109840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-10+12delG
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+12delG
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.729+12delG
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.456+12delG
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.825+12delG
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.777+12delG
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1301+12delG
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8560
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: AC
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

6-35838704-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838704
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838704
    reference: chr 6
allele count: 1
allele frequency: 9.041918333393613e-6
allele num: 110596
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.777+7A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-10+7A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.57+7A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.729+7A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1301+7A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.825+7A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.456+7A>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
hgvs: c.777+7A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

6-35838716-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838716
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838716
    reference: chr 6
allele count: 1
allele frequency: 8.954475446828325e-6
allele num: 111676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-15A>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.52A>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.451A>C
  hgvsp: ENSP00000362928.1:p.Lys151Gln
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.820A>C
  hgvsp: ENSP00000354674.3:p.Lys274Gln
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.772A>C
  hgvsp: ENSP00000362931.2:p.Lys258Gln
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1296A>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.724A>C
  hgvsp: ENSP00000391069.2:p.Lys242Gln
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36146
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys258Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

6-35838720-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838720
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838720
    reference: chr 6
allele count: 1
allele frequency: 8.94470384085583e-6
allele num: 111798
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.768G>C
  hgvsp: ENSP00000362931.2:p.Gln256His
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.720G>C
  hgvsp: ENSP00000391069.2:p.Gln240His
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.816G>C
  hgvsp: ENSP00000354674.3:p.Gln272His
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1292G>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-19G>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.48G>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.447G>C
  hgvsp: ENSP00000362928.1:p.Gln149His
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln256His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

6-35838725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838725
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838725
    reference: chr 6
allele count: 1
allele frequency: 8.939586275947149e-6
allele num: 111862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.442C>T
  hgvsp: ENSP00000362928.1:p.Pro148Ser
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1287C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.811C>T
  hgvsp: ENSP00000354674.3:p.Pro271Ser
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.763C>T
  hgvsp: ENSP00000362931.2:p.Pro255Ser
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.715C>T
  hgvsp: ENSP00000391069.2:p.Pro239Ser
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.43C>T
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro255Ser
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

6-35838733-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838733
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838733
    reference: chr 6
allele count: 1
allele frequency: 8.940225651295439e-6
allele num: 111854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.434G>C
  hgvsp: ENSP00000362928.1:p.Ser145Thr
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.803G>C
  hgvsp: ENSP00000354674.3:p.Ser268Thr
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.755G>C
  hgvsp: ENSP00000362931.2:p.Ser252Thr
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.707G>C
  hgvsp: ENSP00000391069.2:p.Ser236Thr
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.35G>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-32G>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1279G>C
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser252Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

6-35838749-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838749
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838748
    reference: chr 6
allele count: 2
allele frequency: 1.801055418475227e-5
allele num: 111046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.18delT
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.704-14delT
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.431-14delT
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-14delT
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.752-14delT
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1276-14delT
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.800-14delT
  variant of: http://identifiers.org/hgnc/11305
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24804
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: GA
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-35838754-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838754
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838754
    reference: chr 6
allele count: 2
allele frequency: 1.805119318386946e-5
allele num: 110796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.704-18G>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.14G>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-18G>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.752-18G>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1276-18G>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.800-18G>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.431-18G>C
  variant of: http://identifiers.org/hgnc/11305
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3799
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

6-35838762-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838762
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838762
    reference: chr 6
allele count: 1
allele frequency: 9.059283954196261e-6
allele num: 110384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.704-26C>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.800-26C>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1276-26C>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.752-26C>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.6C>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-26C>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.431-26C>G
  variant of: http://identifiers.org/hgnc/11305
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4335
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

6-35838765-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838765
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838765
    reference: chr 6
allele count: 1
allele frequency: 9.073751451800232e-6
allele num: 110208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.800-29A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.704-29A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-29A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1276-29A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000502969
  gene symbol: SRPK1
  hgvsc: ENST00000502969.1:n.3A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.752-29A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.431-29A>G
  variant of: http://identifiers.org/hgnc/11305
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13222
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-35838784-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838784
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35838784
    reference: chr 6
allele count: 3
allele frequency: 2.808094801280491e-5
allele num: 106834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-48T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.800-48T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.431-48T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1276-48T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.704-48T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.752-48T>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14735
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13120
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6971
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-35840297-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840297
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840297
    reference: chr 6
allele count: 119
allele frequency: 1.453062420631044e-3
allele num: 81896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.703+43A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.751+43A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1275+43A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1561A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.799+43A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.430+43A>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21533
  bin: 1.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 1.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17170
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

6-35840305-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840305
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840305
    reference: chr 6
allele count: 1
allele frequency: 1.188551868403537e-5
allele num: 84136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1569A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.430+35A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1275+35A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.703+35A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.799+35A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.751+35A>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

6-35840309-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840309
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840309
    reference: chr 6
allele count: 1
allele frequency: 1.15628324314324e-5
allele num: 86484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.703+31T>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1573T>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.430+31T>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1275+31T>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.799+31T>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.751+31T>C
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5739
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

6-35840310-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840310
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840310
    reference: chr 6
allele count: 10
allele frequency: 1.146158078122135e-4
allele num: 87248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.703+30A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1574A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.430+30A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.751+30A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.799+30A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1275+30A>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11798
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24905
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24572
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

6-35840311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840311
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840311
    reference: chr 6
allele count: 2
allele frequency: 2.275468177577536e-5
allele num: 87894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.703+29C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1575C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.799+29C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.430+29C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.751+29C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1275+29C>T
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4977
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15763
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-35840316-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840316
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840316
    reference: chr 6
allele count: 1
allele frequency: 1.091464745688714e-5
allele num: 91620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1580G>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.430+24G>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.799+24G>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.703+24G>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1275+24G>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.751+24G>T
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

6-35840316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840316
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840316
    reference: chr 6
allele count: 1
allele frequency: 1.091464745688714e-5
allele num: 91620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.703+24G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.430+24G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.799+24G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1580G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.751+24G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1275+24G>A
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30099
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

6-35840317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840317
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840317
    reference: chr 6
allele count: 1
allele frequency: 1.070068056328382e-5
allele num: 93452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.799+23C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.430+23C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1275+23C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1581C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.703+23C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.751+23C>T
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31691
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13217
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

6-35840337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840337
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840337
    reference: chr 6
allele count: 4
allele frequency: 3.792188092529389e-5
allele num: 105480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1601G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1275+3G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.703+3G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.751+3G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.430+3G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.799+3G>A
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40170
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
hgvs: c.751+3G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

6-35840342-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840342
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840342
    reference: chr 6
allele count: 2
allele frequency: 1.86650739136927e-5
allele num: 107152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1606C>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1273C>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.428C>A
  hgvsp: ENSP00000362928.1:p.Ala143Glu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.749C>A
  hgvsp: ENSP00000362931.2:p.Ala250Glu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.701C>A
  hgvsp: ENSP00000391069.2:p.Ala234Glu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.797C>A
  hgvsp: ENSP00000354674.3:p.Ala266Glu
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40471
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala250Glu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

6-35840349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840349
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840349
    reference: chr 6
allele count: 119
allele frequency: 1.094937524153034e-3
allele num: 108682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1266G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1613G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.694G>A
  hgvsp: ENSP00000391069.2:p.Gly232Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.421G>A
  hgvsp: ENSP00000362928.1:p.Gly141Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.790G>A
  hgvsp: ENSP00000354674.3:p.Gly264Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.742G>A
  hgvsp: ENSP00000362931.2:p.Gly248Arg
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39861
  bin: 2.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40018
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly248Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

6-35840350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840350
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840350
    reference: chr 6
allele count: 6
allele frequency: 5.510249063257659e-5
allele num: 108888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.693C>T
  hgvsp: ENST00000423325.2:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1614C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.741C>T
  hgvsp: ENST00000373825.2:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1265C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.789C>T
  hgvsp: ENST00000361690.3:c.789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.420C>T
  hgvsp: ENST00000373822.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser247Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-35840367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840367
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840367
    reference: chr 6
allele count: 1
allele frequency: 9.081827263645446e-6
allele num: 110110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.676G>A
  hgvsp: ENSP00000391069.2:p.Gly226Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.772G>A
  hgvsp: ENSP00000354674.3:p.Gly258Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1631G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.724G>A
  hgvsp: ENSP00000362931.2:p.Gly242Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1248G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.403G>A
  hgvsp: ENSP00000362928.1:p.Gly135Arg
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly242Arg
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-35840372-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840372
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840372
    reference: chr 6
allele count: 1
allele frequency: 9.103156974838875e-6
allele num: 109852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1636G>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.671G>T
  hgvsp: ENSP00000391069.2:p.Arg224Leu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.767G>T
  hgvsp: ENSP00000354674.3:p.Arg256Leu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.398G>T
  hgvsp: ENSP00000362928.1:p.Arg133Leu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.719G>T
  hgvsp: ENSP00000362931.2:p.Arg240Leu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1243G>T
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36552
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg240Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

6-35840373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840373
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840373
    reference: chr 6
allele count: 1
allele frequency: 9.099512266142535e-6
allele num: 109896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.766C>T
  hgvsp: ENSP00000354674.3:p.Arg256Ter
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.670C>T
  hgvsp: ENSP00000391069.2:p.Arg224Ter
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1637C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1242C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.718C>T
  hgvsp: ENSP00000362931.2:p.Arg240Ter
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.397C>T
  hgvsp: ENSP00000362928.1:p.Arg133Ter
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg240Ter
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

6-35840379-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840379
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840379
    reference: chr 6
allele count: 1
allele frequency: 9.103985724950384e-6
allele num: 109842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.664T>C
  hgvsp: ENSP00000391069.2:p.Trp222Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1643T>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1236T>C
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.712T>C
  hgvsp: ENSP00000362931.2:p.Trp238Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.391T>C
  hgvsp: ENSP00000362928.1:p.Trp131Arg
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.760T>C
  hgvsp: ENSP00000354674.3:p.Trp254Arg
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp238Arg
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

6-35840380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840380
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840380
    reference: chr 6
allele count: 4
allele frequency: 3.659116689231219e-5
allele num: 109316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1644A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.759A>G
  hgvsp: ENST00000361690.3:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.390A>G
  hgvsp: ENST00000373822.1:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1235A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.663A>G
  hgvsp: ENST00000423325.2:c.663A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.711A>G
  hgvsp: ENST00000373825.2:c.711A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu237Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-35840385-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840385
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840385
    reference: chr 6
allele count: 5
allele frequency: 4.572975543726792e-5
allele num: 109338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1649A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.658A>G
  hgvsp: ENSP00000391069.2:p.Thr220Ala
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.754A>G
  hgvsp: ENSP00000354674.3:p.Thr252Ala
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.706A>G
  hgvsp: ENSP00000362931.2:p.Thr236Ala
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.385A>G
  hgvsp: ENSP00000362928.1:p.Thr129Ala
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1230A>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34754
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7872
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr236Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

6-35840396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840396
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840396
    reference: chr 6
allele count: 1
allele frequency: 9.244536478940946e-6
allele num: 108172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.743C>T
  hgvsp: ENSP00000354674.3:p.Ala248Val
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1660C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.647C>T
  hgvsp: ENSP00000391069.2:p.Ala216Val
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.695C>T
  hgvsp: ENSP00000362931.2:p.Ala232Val
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.374C>T
  hgvsp: ENSP00000362928.1:p.Ala125Val
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1219C>T
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala232Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

6-35840409-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840409
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840409
    reference: chr 6
allele count: 1
allele frequency: 9.317927692881103e-6
allele num: 107320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.361A>T
  hgvsp: ENSP00000362928.1:p.Ile121Phe
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.634A>T
  hgvsp: ENSP00000391069.2:p.Ile212Phe
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.730A>T
  hgvsp: ENSP00000354674.3:p.Ile244Phe
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1206A>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1673A>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.682A>T
  hgvsp: ENSP00000362931.2:p.Ile228Phe
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33249
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile228Phe
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

6-35840415-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840415
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840415
    reference: chr 6
allele count: 1
allele frequency: 9.416373189702254e-6
allele num: 106198
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.676C>A
  hgvsp: ENSP00000362931.2:p.Gln226Lys
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.724C>A
  hgvsp: ENSP00000354674.3:p.Gln242Lys
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.628C>A
  hgvsp: ENSP00000391069.2:p.Gln210Lys
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1200C>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1679C>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.355C>A
  hgvsp: ENSP00000362928.1:p.Gln119Lys
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8044
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln226Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

6-35840416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840416
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840416
    reference: chr 6
allele count: 2
allele frequency: 1.887433467970254e-5
allele num: 105964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.354G>A
  hgvsp: ENST00000373822.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.627G>A
  hgvsp: ENST00000423325.2:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1680G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.675G>A
  hgvsp: ENST00000373825.2:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1199G>A
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.723G>A
  hgvsp: ENST00000361690.3:c.723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31805
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu225Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

6-35840426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840426
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840426
    reference: chr 6
allele count: 2
allele frequency: 1.921635696304694e-5
allele num: 104078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1189C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.617C>T
  hgvsp: ENSP00000391069.2:p.Ser206Leu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.344C>T
  hgvsp: ENSP00000362928.1:p.Ser115Leu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1690C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.713C>T
  hgvsp: ENSP00000354674.3:p.Ser238Leu
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.665C>T
  hgvsp: ENSP00000362931.2:p.Ser222Leu
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser222Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/6-35840427-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840427
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840427
    reference: chr 6
allele count: 1
allele frequency: 9.621675711041834e-6
allele num: 103932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.616T>G
  hgvsp: ENSP00000391069.2:p.Ser206Ala
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.712T>G
  hgvsp: ENSP00000354674.3:p.Ser238Ala
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.343T>G
  hgvsp: ENSP00000362928.1:p.Ser115Ala
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1691T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1188T>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.664T>G
  hgvsp: ENSP00000362931.2:p.Ser222Ala
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser222Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

6-35840434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840434
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840434
    reference: chr 6
allele count: 1
allele frequency: 9.800270487465453e-6
allele num: 102038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1181C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.705C>T
  hgvsp: ENST00000361690.3:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1698C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.657C>T
  hgvsp: ENST00000373825.2:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.336C>T
  hgvsp: ENST00000373822.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.609C>T
  hgvsp: ENST00000423325.2:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13526
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile219Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

6-35840437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840437
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840437
    reference: chr 6
allele count: 2
allele frequency: 1.976440825361689e-5
allele num: 101192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1701C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.333C>T
  hgvsp: ENST00000373822.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.654C>T
  hgvsp: ENST00000373825.2:c.654C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.702C>T
  hgvsp: ENST00000361690.3:c.702C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1178C>T
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.606C>T
  hgvsp: ENST00000423325.2:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28498
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn218Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

6-35840443-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840443
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840443
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 99400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.600A>G
  hgvsp: ENST00000423325.2:c.600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.327A>G
  hgvsp: ENST00000373822.1:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.648A>G
  hgvsp: ENST00000373825.2:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.696A>G
  hgvsp: ENST00000361690.3:c.696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1172A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1707A>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10358
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro216Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

6-35840463-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35840463
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 35840463
    reference: chr 6
allele count: 1
allele frequency: 1.068353240315378e-5
allele num: 93602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000391069
  ensembl transcript: ENST00000423325
  gene symbol: SRPK1
  hgvsc: ENST00000423325.2:c.580A>G
  hgvsp: ENSP00000391069.2:p.Ile194Val
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000354674
  ensembl transcript: ENST00000361690
  gene symbol: SRPK1
  hgvsc: ENST00000361690.3:c.676A>G
  hgvsp: ENSP00000354674.3:p.Ile226Val
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362928
  ensembl transcript: ENST00000373822
  gene symbol: SRPK1
  hgvsc: ENST00000373822.1:c.307A>G
  hgvsp: ENSP00000362928.1:p.Ile103Val
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000096063
  ensembl transcript: ENST00000346162
  gene symbol: SRPK1
  hgvsc: ENST00000346162.6:n.1152A>G
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000362931
  ensembl transcript: ENST00000373825
  gene symbol: SRPK1
  hgvsc: ENST00000373825.2:c.628A>G
  hgvsp: ENSP00000362931.2:p.Ile210Val
  variant of: http://identifiers.org/hgnc/11305
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096063
  ensembl protein: ENSP00000424170
  ensembl transcript: ENST00000510290
  gene symbol: SRPK1
  hgvsc: ENST00000510290.1:c.-35-1727A>G
  variant of: http://identifiers.org/hgnc/11305
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24440
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile210Val
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T

GenotypeQuality
all individuals: 31083
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.853430700226118e-5
allele num: 53954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: -4.655e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 7.443e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

DP
type: SiteQuality
SIO_000300: 1.418385e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 353
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39616
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3100
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1222
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.621796951021732e-4
allele num: 6166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14850
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

FS
type: SiteQuality
SIO_000300: 1.907e0

QD
type: SiteQuality
SIO_000300: 1.561e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.529348e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.827e-1

GenotypeQuality
all individuals: 677
bin: 3.75e1
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
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GenotypeQuality
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bin: 2.75e1
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7573
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.707475326981525e-5
allele num: 58566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9220
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.827e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

FS
type: SiteQuality
SIO_000300: 1.907e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.529348e6

QD
type: SiteQuality
SIO_000300: 1.561e1

GenotypeQuality
all individuals: 3474
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.64451827242525e-5
allele num: 15050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.94e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.229e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.81e-1

DP
type: SiteQuality
SIO_000300: 1.564761e6

GenotypeQuality
all individuals: 3096
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 303
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.064509261230573e-4
allele num: 9394
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.950248756218905e-5
allele num: 10050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.643007360672976e-5
allele num: 60864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15072
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

DP
type: SiteQuality
SIO_000300: 1.576654e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.958e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 8.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.458e1

GenotypeQuality
all individuals: 3095
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 737
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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
all individuals: 288
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variant carriers: 0

GenotypeQuality
all individuals: 3510
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.649457328538911e-5
allele num: 60626
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.570729e6

MQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.431e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41417
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.65196418541646e-5
allele num: 60534
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 1.739e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 1.568541e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1237
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 622
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 285
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variant carriers: 0

GenotypeQuality
all individuals: 3094
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.624633005908152e-5
allele num: 55178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.278e0

DP
type: SiteQuality
SIO_000300: 1.450092e6

QD
type: SiteQuality
SIO_000300: 5.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.770028275212064e-5
allele num: 53050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.39999e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

FS
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -1.212e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.75e1
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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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
all individuals: 262
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.60926939169617e-4
allele num: 6214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: -5.964e-1

QD
type: SiteQuality
SIO_000300: 1.523e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.309e0

FS
type: SiteQuality
SIO_000300: 5.497e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

DP
type: SiteQuality
SIO_000300: 1.274459e6

GenotypeQuality
all individuals: 1989
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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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variant carriers: 0

GenotypeQuality
all individuals: 555
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.273321652920815e-5
allele num: 46802
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.385e1

DP
type: SiteQuality
SIO_000300: 1.273469e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 4.96e0

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2003
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variant carriers: 0

GenotypeQuality
all individuals: 490
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GenotypeQuality
all individuals: 550
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GenotypeQuality
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GenotypeQuality
all individuals: 2199
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GenotypeQuality
all individuals: 333
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.15610176800345e-5
allele num: 46380
num of homozygotes: 0

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

QD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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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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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.544097693351424e-4
allele num: 35376
num of homozygotes: 0

Other
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South Asian
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allele frequency: 8.744316194473592e-5
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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DP
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FS
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VQSLOD
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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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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 frequency: 2.826775214834916e-5
allele num: 35376
num of homozygotes: 0

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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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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QD
type: SiteQuality
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VQSLOD
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FS
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
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SIO_000300: 1.19e-2

MQRankSum
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SIO_000300: -1.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
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SIO_000300: -1.457e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 6414
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 8.887308922858158e-5
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European (Non-Finnish)
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allele frequency: 2.932207365704903e-5
allele num: 34104
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

VQSLOD
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.5e-2

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
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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Other
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allele frequency: 0.0e0
allele num: 544
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South Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.109108681043436e-5
allele num: 32738
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Latino
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allele frequency: 0.0e0
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African
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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DP
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BaseQRankSum
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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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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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MQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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South Asian
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allele num: 9096
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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MQ
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FS
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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Other
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East Asian
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BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 8054
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European (Non-Finnish)
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Other
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Latino
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African
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European (Finnish)
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East Asian
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VQSLOD
type: SiteQuality
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DP
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.74e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.368e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
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GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 2.676e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 7.0127e5

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.809999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.261e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10796
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.591e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.99e-2

DP
type: SiteQuality
SIO_000300: 6.78069e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e0

FS
type: SiteQuality
SIO_000300: 1.8625e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

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
all individuals: 7
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GenotypeQuality
all individuals: 355
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.053740779768177e-4
allele num: 9490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2242
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.613e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.256e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.36e-2

QD
type: SiteQuality
SIO_000300: 1.727e1

DP
type: SiteQuality
SIO_000300: 6.03749e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 2430
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variant carriers: 0

GenotypeQuality
all individuals: 100
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5326
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.055743243243243e-4
allele num: 9472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.320000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.77e-1

FS
type: SiteQuality
SIO_000300: 3.039e0

DP
type: SiteQuality
SIO_000300: 6.01505e5

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

QD
type: SiteQuality
SIO_000300: 1.722e1

GenotypeQuality
all individuals: 1107
bin: 6.75e1
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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GenotypeQuality
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GenotypeQuality
all individuals: 3071
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GenotypeQuality
all individuals: 100
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2238
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.00515e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.863e0

QD
type: SiteQuality
SIO_000300: 1.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.31e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 2.095e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 2.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

VQSLOD
type: SiteQuality
SIO_000300: -2.612e0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.028494803888703e-5
allele num: 59660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.964129135113592e-5
allele num: 10036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14998
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

QD
type: SiteQuality
SIO_000300: 1.462e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.316454e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

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: 2

GenotypeQuality
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GenotypeQuality
all individuals: 3035
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.352105122016626e-5
allele num: 59664
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 5.532e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

VQSLOD
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.326798e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-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
all individuals: 1340
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.677739749010134e-5
allele num: 59604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.87e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

VQSLOD
type: SiteQuality
SIO_000300: -4.152e-1

DP
type: SiteQuality
SIO_000300: 1.331038e6

ReadPosRankSum
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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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.672464543751672e-5
allele num: 59792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 15004
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QD
type: SiteQuality
SIO_000300: 5.24e0

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.341183e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.71e0

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

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: 1

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: 6276
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.877518767285657e-5
allele num: 10124
num of homozygotes: 0

African
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allele count: 0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.658209796703479e-5
allele num: 60306
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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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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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.656122685568547e-5
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num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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FS
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MQRankSum
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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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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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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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European (Non-Finnish)
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allele num: 60722
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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QD
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SIO_000300: 8.279999999999999e0

DP
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SIO_000300: 1.453482e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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European (Non-Finnish)
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allele num: 61160
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: 0.0e0
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Other
type: Population
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allele num: 826
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Latino
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
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DP
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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SIO_000300: -5.61e-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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African
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allele frequency: 0.0e0
allele num: 8842
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
type: Population
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European (Non-Finnish)
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allele frequency: 1.619170984455958e-5
allele num: 61760
num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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FS
type: SiteQuality
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MQ
type: SiteQuality
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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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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 frequency: 0.0e0
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Latino
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South Asian
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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QD
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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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Latino
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East Asian
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 61848
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MQ
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ClippingRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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South Asian
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African
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European (Non-Finnish)
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allele num: 61824
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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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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South Asian
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European (Non-Finnish)
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East Asian
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African
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Latino
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European (Finnish)
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Other
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.129943502824859e-4
allele num: 8850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.634040328115298e-5
allele num: 61198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.434487e6

VQSLOD
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.83e-1

QD
type: SiteQuality
SIO_000300: 1.029e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 4.079e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3141
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.569438969911969e-5
allele num: 15222
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.091e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.385984e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.734e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 1.2096e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 398
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 398
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9787
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4335
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.584145377929945e-5
allele num: 15188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.365135e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.036e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

GenotypeQuality
all individuals: 5153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4341
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 551
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variant carriers: 0

GenotypeQuality
all individuals: 7915
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.088022794342119e-5
allele num: 58962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14832
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 1.377e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

QD
type: SiteQuality
SIO_000300: 1.147e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

DP
type: SiteQuality
SIO_000300: 1.302618e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 7274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14746
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 9.75e1
variant carriers: 113

GenotypeQuality
all individuals: 2915
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 281
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 173
bin: 9.25e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4934
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 5.374899220639613e-4
allele num: 7442
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.470588235294118e-3
allele num: 680
num of homozygotes: 0

African
type: Population
allele count: 113
allele frequency: 1.650116822429907e-2
allele num: 6848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.225090116149704e-5
allele num: 44942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5564
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

DP
type: SiteQuality
SIO_000300: 8.4119e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.66e0

QD
type: SiteQuality
SIO_000300: 1.514e1

GenotypeQuality
all individuals: 1398
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4423
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.165720968510417e-5
allele num: 46174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7086
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-1

DP
type: SiteQuality
SIO_000300: 9.38126e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

VQSLOD
type: SiteQuality
SIO_000300: -3.139e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

GenotypeQuality
all individuals: 412
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23094
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5094
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.688048615800135e-4
allele num: 5924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12090
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

DP
type: SiteQuality
SIO_000300: 9.99833e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 2.126e0

GenotypeQuality
all individuals: 5373
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.176760504552669e-5
allele num: 47884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.918839153959665e-4
allele num: 12198
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.51004016064257e-4
allele num: 7968
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

FS
type: SiteQuality
SIO_000300: 4.748e0

DP
type: SiteQuality
SIO_000300: 1.014092e6

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.314e1

GenotypeQuality
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.161932745674175e-5
allele num: 12252
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.073226354853423e-5
allele num: 48234
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.624e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.268e0

VQSLOD
type: SiteQuality
SIO_000300: -4.03e-2

DP
type: SiteQuality
SIO_000300: 1.030694e6

MQ
type: SiteQuality
SIO_000300: 5.914e1

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeQuality
all individuals: 263
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2113
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3651
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.900142202559646e-5
allele num: 12658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.088277e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.015e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 98
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1718
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.900142202559646e-5
allele num: 12658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

DP
type: SiteQuality
SIO_000300: 1.088277e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.015e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1503
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.947267983019823e-5
allele num: 51354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.111674e6

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

GenotypeQuality
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bin: 1.75e1
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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bin: 9.75e1
variant carriers: 4

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.161556725508413e-5
allele num: 58122
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.716443529007896e-4
allele num: 5826
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.426e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 2.566e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.083e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.421e0

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

FS
type: SiteQuality
SIO_000300: 1.3282e1

DP
type: SiteQuality
SIO_000300: 1.249963e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.385928082887519e-5
allele num: 59068
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.268798e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.289e0

FS
type: SiteQuality
SIO_000300: 8.788e0

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

QD
type: SiteQuality
SIO_000300: 7.16e0

GenotypeQuality
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bin: 5.75e1
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: 1220
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
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variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 9.75e1
variant carriers: 115

GenotypeQuality
all individuals: 528
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variant carriers: 1

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 29
allele frequency: 4.869039623908664e-3
allele num: 5956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7936
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.12637981527371e-4
allele num: 8878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 88
allele frequency: 1.465396656231266e-3
allele num: 60052
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

DP
type: SiteQuality
SIO_000300: 1.284511e6

FS
type: SiteQuality
SIO_000300: 6.273e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.25e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1580
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
all individuals: 268
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variant carriers: 0

GenotypeQuality
all individuals: 1367
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GenotypeQuality
all individuals: 828
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.789788158609451e-5
allele num: 14728
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.124353496739375e-4
allele num: 8894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.987033712347896e-5
allele num: 60156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.38e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

DP
type: SiteQuality
SIO_000300: 1.287336e6

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 4.634e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1373
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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: 1309
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GenotypeQuality
all individuals: 699
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.63907556138338e-5
allele num: 61010
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.223e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.295695e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.642413691160529e-5
allele num: 60886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14720
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 2.432e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -2.47e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 1.29347e6

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1420
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10460
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.118568232662192e-4
allele num: 8940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60898
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6004
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.61e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

FS
type: SiteQuality
SIO_000300: 2.409e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.296465e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
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allele frequency: 0.0e0
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African
type: Population
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South Asian
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Latino
type: Population
allele count: 0
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allele num: 10412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.641604832884628e-5
allele num: 60916
num of homozygotes: 0

Other
type: Population
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allele num: 812
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

DP
type: SiteQuality
SIO_000300: 1.292419e6

GenotypeQuality
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GenotypeQuality
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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: 1604
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GenotypeQuality
all individuals: 7776
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8946
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South Asian
type: Population
allele count: 3
allele frequency: 2.055076037813399e-4
allele num: 14598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60644
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.253761283851555e-4
allele num: 7976
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

BaseQRankSum
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SIO_000300: 4.69e0

VQSLOD
type: SiteQuality
SIO_000300: -3.79e-2

QD
type: SiteQuality
SIO_000300: 1.575e1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

DP
type: SiteQuality
SIO_000300: 1.282795e6

FS
type: SiteQuality
SIO_000300: 7.209e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.243751236562685e-5
allele num: 60652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.322e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

FS
type: SiteQuality
SIO_000300: 6.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

DP
type: SiteQuality
SIO_000300: 1.280572e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.666666666666667e-5
allele num: 60000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14430
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

MQ
type: SiteQuality
SIO_000300: 5.633e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.083e0

DP
type: SiteQuality
SIO_000300: 1.266336e6

FS
type: SiteQuality
SIO_000300: 5.724e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.679486748849552e-5
allele num: 59542
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

DP
type: SiteQuality
SIO_000300: 1.25758e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 1.072e1

FS
type: SiteQuality
SIO_000300: 3.976e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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: 9.75e1
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
all individuals: 1500
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58874
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.018744906275469e-4
allele num: 9816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14202
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.537e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.669e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.246558e6

MQ
type: SiteQuality
SIO_000300: 5.804e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.484e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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
all individuals: 757
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.404255319148936e-5
allele num: 58750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14176
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

DP
type: SiteQuality
SIO_000300: 1.24285e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.381e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

FS
type: SiteQuality
SIO_000300: 2.501e0

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: 2

GenotypeQuality
all individuals: 1447
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GenotypeQuality
all individuals: 484
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variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.103934357248054e-4
allele num: 9506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

FS
type: SiteQuality
SIO_000300: 4.901e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.535e0

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

DP
type: SiteQuality
SIO_000300: 1.223697e6

VQSLOD
type: SiteQuality
SIO_000300: 2.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

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: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5776
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.182876023559833e-5
allele num: 13922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e0

QD
type: SiteQuality
SIO_000300: 1.108e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.87e1

VQSLOD
type: SiteQuality
SIO_000300: -1.284e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 2.668e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.168e0

DP
type: SiteQuality
SIO_000300: 1.22009e6

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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56594
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.825e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.405e1

DP
type: SiteQuality
SIO_000300: 1.199924e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56126
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 7402
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13638
num of homozygotes: 0

African
type: Population
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allele frequency: 2.34852043212776e-4
allele num: 8516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.064e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 1.190807e6

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 6.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.75e1
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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bin: 9.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55076
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

QD
type: SiteQuality
SIO_000300: 1.395e1

MQRankSum
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.169247e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 512
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GenotypeQuality
all individuals: 1981
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.933188988555521e-5
allele num: 51728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0