22-45133174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45133174
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45133174
    reference: chr 22
allele count: 206
allele frequency: 2.031117509021711e-3
allele num: 101422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.105+10660G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186654
  ensembl transcript: ENST00000475850
  gene symbol: PRR5
  hgvsc: ENST00000475850.1:n.1578G>A
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.691+2132G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000392026
  ensembl transcript: ENST00000432916
  gene symbol: PRR5
  hgvsc: ENST00000432916.1:c.*704G>A
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000337464
  ensembl transcript: ENST00000336985
  gene symbol: PRR5
  hgvsc: ENST00000336985.6:c.*47G>A
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.295+10660G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000384848
  ensembl transcript: ENST00000403581
  gene symbol: PRR5
  hgvsc: ENST00000403581.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186654
  ensembl transcript: ENST00000495017
  gene symbol: PRR5
  hgvsc: ENST00000495017.1:n.1738G>A
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000405404
  ensembl transcript: ENST00000455389
  gene symbol: PRR5
  hgvsc: ENST00000455389.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000006251
  ensembl transcript: ENST00000006251
  gene symbol: PRR5
  hgvsc: ENST00000006251.7:c.*47G>A
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.691+2132G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000407637
  ensembl transcript: ENST00000431834
  gene symbol: PRR5
  hgvsc: ENST00000431834.1:c.*840G>A
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.90+10660G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.322+10660G>A
  variant of: http://identifiers.org/hgnc/34512
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19684
  bin: 2.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 7.5e0
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 2.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 3.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 2
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

22-45133174-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45133174
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45133174
    reference: chr 22
allele count: 1
allele frequency: 9.859793733115103e-6
allele num: 101422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000405404
  ensembl transcript: ENST00000455389
  gene symbol: PRR5
  hgvsc: ENST00000455389.1:c.*47G>C
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186654
  ensembl transcript: ENST00000475850
  gene symbol: PRR5
  hgvsc: ENST00000475850.1:n.1578G>C
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000384848
  ensembl transcript: ENST00000403581
  gene symbol: PRR5
  hgvsc: ENST00000403581.1:c.*47G>C
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000392026
  ensembl transcript: ENST00000432916
  gene symbol: PRR5
  hgvsc: ENST00000432916.1:c.*704G>C
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.105+10660G>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186654
  ensembl transcript: ENST00000495017
  gene symbol: PRR5
  hgvsc: ENST00000495017.1:n.1738G>C
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000006251
  ensembl transcript: ENST00000006251
  gene symbol: PRR5
  hgvsc: ENST00000006251.7:c.*47G>C
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.90+10660G>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.322+10660G>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000407637
  ensembl transcript: ENST00000431834
  gene symbol: PRR5
  hgvsc: ENST00000431834.1:c.*840G>C
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.295+10660G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000337464
  ensembl transcript: ENST00000336985
  gene symbol: PRR5
  hgvsc: ENST00000336985.6:c.*47G>C
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.691+2132G>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.691+2132G>C
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-45133178-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45133178
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45133178
    reference: chr 22
allele count: 1
allele frequency: 9.896286913150186e-6
allele num: 101048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.90+10664G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000405404
  ensembl transcript: ENST00000455389
  gene symbol: PRR5
  hgvsc: ENST00000455389.1:c.*51G>T
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.105+10664G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000006251
  ensembl transcript: ENST00000006251
  gene symbol: PRR5
  hgvsc: ENST00000006251.7:c.*51G>T
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000384848
  ensembl transcript: ENST00000403581
  gene symbol: PRR5
  hgvsc: ENST00000403581.1:c.*51G>T
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000392026
  ensembl transcript: ENST00000432916
  gene symbol: PRR5
  hgvsc: ENST00000432916.1:c.*708G>T
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186654
  ensembl transcript: ENST00000495017
  gene symbol: PRR5
  hgvsc: ENST00000495017.1:n.1742G>T
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186654
  ensembl transcript: ENST00000475850
  gene symbol: PRR5
  hgvsc: ENST00000475850.1:n.1582G>T
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000337464
  ensembl transcript: ENST00000336985
  gene symbol: PRR5
  hgvsc: ENST00000336985.6:c.*51G>T
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.691+2136G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.322+10664G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186654
  ensembl protein: ENSP00000407637
  ensembl transcript: ENST00000431834
  gene symbol: PRR5
  hgvsc: ENST00000431834.1:c.*844G>T
  variant of: http://identifiers.org/hgnc/31682
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.691+2136G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.295+10664G>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

22-45182287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182287
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182287
    reference: chr 22
allele count: 14
allele frequency: 6.308011174191223e-4
allele num: 22194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-50C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-50C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-50C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-50C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-50C>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17901
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28860
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

22-45182289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182289
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182289
    reference: chr 22
allele count: 3
allele frequency: 1.353057910878586e-4
allele num: 22172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-48C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-48C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-48C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-48C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-48C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-48C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-48C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-48C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-48C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-48C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-48C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-48C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-48C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-48C>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28863
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17879
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

22-45182295-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182295
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182295
    reference: chr 22
allele count: 244
allele frequency: 1.07488986784141e-2
allele num: 22700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-42A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-42A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-42A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-42A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-42A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-42A>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-42A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-42A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-42A>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-42A>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-42A>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-42A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-42A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-42A>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27876
  bin: 2.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 1.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 18935
  bin: 7.5e0
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
num of homozygotes: 9
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

22-45182300-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182300
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182300
    reference: chr 22
allele count: 1
allele frequency: 4.358437935843793e-5
allele num: 22944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-37A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-37A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-37A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-37A>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-37A>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-37A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-37A>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-37A>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-37A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-37A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-37A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-37A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-37A>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-37A>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

22-45182312-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182312
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182312
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 24590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-25C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-25C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-25C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-25C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-25C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-25C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-25C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-25C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-25C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-25C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-25C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-25C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-25C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-25C>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24548
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

22-45182313-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182313
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182313
    reference: chr 22
allele count: 1
allele frequency: 4.002882075094068e-5
allele num: 24982
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-24T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-24T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-24T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-24T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-24T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-24T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-24T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-24T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-24T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-24T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-24T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-24T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-24T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-24T>C
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25103
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

22-45182315-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182315
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182315
    reference: chr 22
allele count: 1
allele frequency: 3.975510853144629e-5
allele num: 25154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-22C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-22C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-22C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-22C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-22C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-22C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-22C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-22C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-22C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-22C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-22C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-22C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-22C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-22C>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18038
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

22-45182321-ATCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182321
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182318
    reference: chr 22
allele count: 9824
allele frequency: 2.664641423456656e-1
allele num: 36868
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-11_296-9delCTT
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-11_-71-9delCTT
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-11_91-9delCTT
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-11_692-9delCTT
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-11_-71-9delCTT
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-11_-71-9delCTT
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-11_-71-9delCTT
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-11_497-9delCTT
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-11_692-9delCTT
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-11_-71-9delCTT
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-11_55-9delCTT
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-11_323-9delCTT
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-11_106-9delCTT
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-11_-71-9delCTT
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 1.25e1
  variant carriers: 4388
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 1.75e1
  variant carriers: 1518
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.25e1
  variant carriers: 771
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.25e1
  variant carriers: 415
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 2.75e1
  variant carriers: 609
genotype depth: GenotypeDepth
  all individuals: 29724
  bin: 7.5e0
  variant carriers: 4893
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
num of homozygotes: 851
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: ATCT
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

22-45182325-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182325
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182325
    reference: chr 22
allele count: 1
allele frequency: 4.989522003792037e-5
allele num: 20042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-12T>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-12T>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-12T>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-12T>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-12T>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-12T>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-12T>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-12T>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-12T>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-12T>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-12T>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-12T>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-12T>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-12T>A
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

22-45182328-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182328
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182328
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 40654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-9T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-9T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-9T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-9T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-9T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-9T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-9T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-9T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-9T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-9T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-9T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-9T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-9T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-9T>C
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31696
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

22-45182331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182331
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182331
    reference: chr 22
allele count: 3
allele frequency: 7.132328467500356e-5
allele num: 42062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-6C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-6C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-6C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-6C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-6C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-6C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-6C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-6C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-6C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-6C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-6C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-6C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-6C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-6C>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8110
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.296-6C>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

22-45182332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182332
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182332
    reference: chr 22
allele count: 5
allele frequency: 1.164469700498393e-4
allele num: 42938
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-5C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-5C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-5C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-5C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-5C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-5C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-5C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-5C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-5C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-5C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-5C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-5C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-5C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-5C>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32112
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.296-5C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

22-45182333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182333
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182333
    reference: chr 22
allele count: 4
allele frequency: 9.096697898662786e-5
allele num: 43972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-4G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-4G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-4G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-4G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-4G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-4G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-4G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-4G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-4G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-4G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-4G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-4G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-4G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-4G>A
  variant of: http://identifiers.org/hgnc/34512
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32036
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.296-4G>A
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

22-45182333-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182333
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182333
    reference: chr 22
allele count: 23
allele frequency: 5.230601291731101e-4
allele num: 43972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-4G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-4G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-4G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-4G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-4G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-4G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-4G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-4G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-4G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-4G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-4G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-4G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-4G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-4G>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.296-4G>T
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

22-45182335-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182335
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182335
    reference: chr 22
allele count: 1
allele frequency: 2.157497303128371e-5
allele num: 46350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-71-2A>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-71-2A>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-71-2A>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.497-2A>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.692-2A>G
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-71-2A>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-71-2A>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.91-2A>G
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.296-2A>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-71-2A>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.323-2A>G
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.55-2A>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.692-2A>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.106-2A>G
  variant of: http://identifiers.org/hgnc/34512
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.296-2A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

22-45182348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182348
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182348
    reference: chr 22
allele count: 7
allele frequency: 1.241883404889472e-4
allele num: 56366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.307G>A
  hgvsp: ENSP00000374423.5:p.Asp103Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-60G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.334G>A
  hgvsp: ENSP00000354732.5:p.Asp112Asn
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-60G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.102G>A
  hgvsp: ENSP00000425026.1:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-60G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.66G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.703G>A
  hgvsp: ENSP00000429240.3:p.Asp235Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-60G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.703G>A
  hgvsp: ENSP00000262731.11:p.Asp235Asn
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-60G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.508G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-60G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.117G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-60G>A
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29517
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8523
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Asp235Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

22-45182352-AGGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182352
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182349
    reference: chr 22
allele count: 4
allele frequency: 6.717270101430779e-5
allele num: 59548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.131_133delGGC
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.348_350delGGC
  hgvsp: ENSP00000354732.5:p.Ala118del
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.80_82delGGC
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.321_323delGGC
  hgvsp: ENSP00000374423.5:p.Ala109del
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.717_719delGGC
  hgvsp: ENSP00000429240.3:p.Ala241del
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.717_719delGGC
  hgvsp: ENSP00000262731.11:p.Ala241del
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.116_118delGGC
  hgvsp: ENSP00000425026.1:p.Ala41del
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.522_524delGGC
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-46_-44delGGC
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-46_-44delGGC
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-46_-44delGGC
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-46_-44delGGC
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-46_-44delGGC
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-46_-44delGGC
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-46_-44delGGC
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12788
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala241del
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: AGGC
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

22-45182355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182355
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182355
    reference: chr 22
allele count: 2
allele frequency: 3.290014805066623e-5
allele num: 60790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.515C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.341C>T
  hgvsp: ENSP00000354732.5:p.Ala114Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.73C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-53C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.124C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.710C>T
  hgvsp: ENSP00000429240.3:p.Ala237Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-53C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-53C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-53C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.710C>T
  hgvsp: ENSP00000262731.11:p.Ala237Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-53C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-53C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.314C>T
  hgvsp: ENSP00000374423.5:p.Ala105Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.109C>T
  hgvsp: ENSP00000425026.1:p.Ala37Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-53C>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala237Val
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

22-45182356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182356
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182356
    reference: chr 22
allele count: 3
allele frequency: 4.786826653050804e-5
allele num: 62672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.125G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-52G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-52G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.315G>A
  hgvsp: ENST00000389773.5:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-52G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.342G>A
  hgvsp: ENST00000361473.5:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-52G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.110G>A
  hgvsp: ENST00000515632.1:c.110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.711G>A
  hgvsp: ENST00000352766.7:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-52G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-52G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.516G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-52G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.74G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.711G>A
  hgvsp: ENST00000517296.3:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14190
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala237Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

22-45182358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182358
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182358
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 65276
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.317C>T
  hgvsp: ENSP00000374423.5:p.Ala106Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.713C>T
  hgvsp: ENSP00000262731.11:p.Ala238Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.112C>T
  hgvsp: ENSP00000425026.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.518C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.713C>T
  hgvsp: ENSP00000429240.3:p.Ala238Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.344C>T
  hgvsp: ENSP00000354732.5:p.Ala115Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.76C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-50C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.127C>T
  variant of: http://identifiers.org/hgnc/34512
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24421
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala238Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

22-45182359-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182359
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182359
    reference: chr 22
allele count: 1
allele frequency: 1.479158654557288e-5
allele num: 67606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-49G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.519G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.345G>A
  hgvsp: ENST00000361473.5:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-49G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.714G>A
  hgvsp: ENST00000517296.3:c.714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.714G>A
  hgvsp: ENST00000352766.7:c.714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-49G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.128G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-49G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-49G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.113G>A
  hgvsp: ENST00000515632.1:c.113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-49G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.318G>A
  hgvsp: ENST00000389773.5:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.77G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-49G>A
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23714
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala238Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-45182361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182361
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182361
    reference: chr 22
allele count: 168
allele frequency: 2.3808174139788e-3
allele num: 70564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-47C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-47C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.347C>T
  hgvsp: ENSP00000354732.5:p.Ala116Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-47C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.130C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.716C>T
  hgvsp: ENSP00000262731.11:p.Ala239Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.79C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.115C>T
  hgvsp: ENSP00000425026.1:p.Ala39Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.320C>T
  hgvsp: ENSP00000374423.5:p.Ala107Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-47C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.716C>T
  hgvsp: ENSP00000429240.3:p.Ala239Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-47C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.521C>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22426
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 17049
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala239Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

22-45182362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182362
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182362
    reference: chr 22
allele count: 2
allele frequency: 2.71171733058546e-5
allele num: 73754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-46G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.348G>A
  hgvsp: ENST00000361473.5:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-46G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.116G>A
  hgvsp: ENST00000515632.1:c.116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.80G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.321G>A
  hgvsp: ENST00000389773.5:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-46G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.717G>A
  hgvsp: ENST00000517296.3:c.717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-46G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.717G>A
  hgvsp: ENST00000352766.7:c.717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.131G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-46G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.522G>A
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala239Ala
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

22-45182366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182366
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182366
    reference: chr 22
allele count: 2
allele frequency: 2.465240114387141e-5
allele num: 81128
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.325G>A
  hgvsp: ENSP00000374423.5:p.Ala109Thr
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.352G>A
  hgvsp: ENSP00000354732.5:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.120G>A
  hgvsp: ENSP00000425026.1:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.526G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.84G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.721G>A
  hgvsp: ENSP00000262731.11:p.Ala241Thr
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-42G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.721G>A
  hgvsp: ENSP00000429240.3:p.Ala241Thr
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-42G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-42G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-42G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.135G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-42G>A
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala241Thr
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: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

22-45182375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182375
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182375
    reference: chr 22
allele count: 1
allele frequency: 1.090655265683623e-5
allele num: 91688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.129G>A
  hgvsp: ENSP00000425026.1:p.Gly44Ser
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-33G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-33G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-33G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-33G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.334G>A
  hgvsp: ENSP00000374423.5:p.Gly112Ser
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.361G>A
  hgvsp: ENSP00000354732.5:p.Gly121Ser
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.144G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.730G>A
  hgvsp: ENSP00000262731.11:p.Gly244Ser
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.535G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.730G>A
  hgvsp: ENSP00000429240.3:p.Gly244Ser
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.93G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-33G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-33G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-33G>A
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly244Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

22-45182375-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182375
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182375
    reference: chr 22
allele count: 1
allele frequency: 1.090655265683623e-5
allele num: 91688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-33G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-33G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-33G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-33G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.334G>C
  hgvsp: ENSP00000374423.5:p.Gly112Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.730G>C
  hgvsp: ENSP00000262731.11:p.Gly244Arg
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.129G>C
  hgvsp: ENSP00000425026.1:p.Gly44Arg
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.361G>C
  hgvsp: ENSP00000354732.5:p.Gly121Arg
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-33G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.730G>C
  hgvsp: ENSP00000429240.3:p.Gly244Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-33G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.535G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.93G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-33G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.144G>C
  variant of: http://identifiers.org/hgnc/34512
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly244Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-45182386-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182386
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182386
    reference: chr 22
allele count: 1
allele frequency: 9.787417296323847e-6
allele num: 102172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-22G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.372G>T
  hgvsp: ENSP00000354732.5:p.Arg124Ser
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-22G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-22G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-22G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-22G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.104G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.741G>T
  hgvsp: ENSP00000262731.11:p.Arg247Ser
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.345G>T
  hgvsp: ENSP00000374423.5:p.Arg115Ser
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-22G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000469872
  gene symbol: ARHGAP8
  hgvsc: ENST00000469872.1:n.546G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-22G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.155G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.140G>T
  hgvsp: ENSP00000425026.1:p.Arg47Ser
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.741G>T
  hgvsp: ENSP00000429240.3:p.Arg247Ser
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg247Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

22-45182397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182397
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182397
    reference: chr 22
allele count: 4
allele frequency: 3.753190211679928e-5
allele num: 106576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.151C>T
  hgvsp: ENSP00000425026.1:p.Ser51Leu
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-11C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-11C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-11C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.752C>T
  hgvsp: ENSP00000262731.11:p.Ser251Leu
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.356C>T
  hgvsp: ENSP00000374423.5:p.Ser119Leu
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.383C>T
  hgvsp: ENSP00000354732.5:p.Ser128Leu
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.166C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.752C>T
  hgvsp: ENSP00000429240.3:p.Ser251Leu
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.115C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-11C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-11C>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35017
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser251Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

22-45182398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182398
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182398
    reference: chr 22
allele count: 5
allele frequency: 4.668621262768679e-5
allele num: 107098
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.357G>A
  hgvsp: ENST00000389773.5:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-10G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-10G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-10G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.384G>A
  hgvsp: ENST00000361473.5:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.152G>A
  hgvsp: ENST00000515632.1:c.152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.753G>A
  hgvsp: ENST00000352766.7:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.753G>A
  hgvsp: ENST00000517296.3:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.167G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-10G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-10G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.116G>A
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser251Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

22-45182402-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182402
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182402
    reference: chr 22
allele count: 2
allele frequency: 1.849044044229134e-5
allele num: 108164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.-6G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.388G>C
  hgvsp: ENSP00000354732.5:p.Val130Leu
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.-6G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.171G>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.156G>C
  hgvsp: ENSP00000425026.1:p.Val53Leu
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.757G>C
  hgvsp: ENSP00000429240.3:p.Val253Leu
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.757G>C
  hgvsp: ENSP00000262731.11:p.Val253Leu
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.120G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.-6G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.361G>C
  hgvsp: ENSP00000374423.5:p.Val121Leu
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.-6G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.-6G>C
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val253Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

22-45182413-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182413
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182414
    reference: chr 22
allele count: 1
allele frequency: 9.170778232240788e-6
allele num: 109042
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.401dupG
  hgvsp: ENSP00000354732.5:p.Gln135ProfsTer26
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.8dupG
  hgvsp: ENSP00000348407.6:p.Gln4ProfsTer26
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.8dupG
  hgvsp: ENSP00000379425.2:p.Gln4ProfsTer26
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.374dupG
  hgvsp: ENSP00000374423.5:p.Gln126ProfsTer26
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.133dupG
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.770dupG
  hgvsp: ENSP00000262731.11:p.Gln258ProfsTer26
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.184dupG
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.8dupG
  hgvsp: ENSP00000403618.1:p.Gln4ProfsTer26
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.169dupG
  hgvsp: ENSP00000425026.1:p.Gln58ProfsTer26
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.8dupG
  hgvsp: ENSP00000337287.4:p.Gln4ProfsTer26
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.8dupG
  hgvsp: ENSP00000402775.1:p.Gln4ProfsTer26
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.770dupG
  hgvsp: ENSP00000429240.3:p.Gln258ProfsTer26
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.8dupG
  hgvsp: ENSP00000374422.4:p.Gln4ProfsTer402
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.8dupG
  hgvsp: ENSP00000374424.2:p.Gln4ProfsTer26
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 29560
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln126ProfsTer26
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

22-45182416-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182416
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182416
    reference: chr 22
allele count: 271
allele frequency: 3.57717996779218e-3
allele num: 75758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.9C>G
  hgvsp: ENST00000356099.6:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.402C>G
  hgvsp: ENST00000361473.5:c.402C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.9C>G
  hgvsp: ENST00000336963.4:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.9C>G
  hgvsp: ENST00000389772.4:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.9C>G
  hgvsp: ENST00000396119.2:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.375C>G
  hgvsp: ENST00000389773.5:c.375C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.170C>G
  hgvsp: ENST00000515632.1:c.170C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.185C>G
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.771C>G
  hgvsp: ENST00000517296.3:c.771C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.771C>G
  hgvsp: ENST00000352766.7:c.771C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.134C>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.9C>G
  hgvsp: ENST00000447333.1:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.9C>G
  hgvsp: ENST00000412433.1:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.9C>G
  hgvsp: ENST00000389774.2:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 22742
  bin: 2.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 2.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
hgvs: p.Gly125Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

22-45182416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182416
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182416
    reference: chr 22
allele count: 2
allele frequency: 2.63998521608279e-5
allele num: 75758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.134C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.9C>T
  hgvsp: ENST00000356099.6:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.9C>T
  hgvsp: ENST00000447333.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.771C>T
  hgvsp: ENST00000352766.7:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.9C>T
  hgvsp: ENST00000389772.4:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.402C>T
  hgvsp: ENST00000361473.5:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.170C>T
  hgvsp: ENST00000515632.1:c.170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.9C>T
  hgvsp: ENST00000389774.2:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.375C>T
  hgvsp: ENST00000389773.5:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.185C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.771C>T
  hgvsp: ENST00000517296.3:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.9C>T
  hgvsp: ENST00000412433.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.9C>T
  hgvsp: ENST00000336963.4:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.9C>T
  hgvsp: ENST00000396119.2:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly125Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

22-45182417-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182417
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182417
    reference: chr 22
allele count: 155
allele frequency: 1.445679749291151e-3
allele num: 107216
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.772C>G
  hgvsp: ENSP00000262731.11:p.Gln258Glu
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.10C>G
  hgvsp: ENSP00000379425.2:p.Gln4Glu
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.10C>G
  hgvsp: ENSP00000374424.2:p.Gln4Glu
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.10C>G
  hgvsp: ENSP00000337287.4:p.Gln4Glu
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.186C>G
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.135C>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.772C>G
  hgvsp: ENSP00000429240.3:p.Gln258Glu
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.403C>G
  hgvsp: ENSP00000354732.5:p.Gln135Glu
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.10C>G
  hgvsp: ENSP00000402775.1:p.Gln4Glu
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.10C>G
  hgvsp: ENSP00000374422.4:p.Gln4Glu
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.10C>G
  hgvsp: ENSP00000348407.6:p.Gln4Glu
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.10C>G
  hgvsp: ENSP00000403618.1:p.Gln4Glu
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.171C>G
  hgvsp: ENSP00000425026.1:p.Gln58Glu
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.376C>G
  hgvsp: ENSP00000374423.5:p.Gln126Glu
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 25324
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gln126Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

22-45182418-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182418
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182418
    reference: chr 22
allele count: 155
allele frequency: 1.420350414192508e-3
allele num: 109128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.11A>G
  hgvsp: ENSP00000403618.1:p.Gln4Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.377A>G
  hgvsp: ENSP00000374423.5:p.Gln126Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.11A>G
  hgvsp: ENSP00000337287.4:p.Gln4Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.172A>G
  hgvsp: ENSP00000425026.1:p.Gln58Arg
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.11A>G
  hgvsp: ENSP00000379425.2:p.Gln4Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.404A>G
  hgvsp: ENSP00000354732.5:p.Gln135Arg
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.773A>G
  hgvsp: ENSP00000429240.3:p.Gln258Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.11A>G
  hgvsp: ENSP00000402775.1:p.Gln4Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.11A>G
  hgvsp: ENSP00000374424.2:p.Gln4Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.187A>G
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.773A>G
  hgvsp: ENSP00000262731.11:p.Gln258Arg
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.11A>G
  hgvsp: ENSP00000374422.4:p.Gln4Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.11A>G
  hgvsp: ENSP00000348407.6:p.Gln4Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.136A>G
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Gln126Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

22-45182425-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182425
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182425
    reference: chr 22
allele count: 425
allele frequency: 3.781879015465661e-3
allele num: 112378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.179T>A
  hgvsp: ENST00000515632.1:c.179T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.384T>A
  hgvsp: ENST00000389773.5:c.384T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.18T>A
  hgvsp: ENST00000389772.4:c.18T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.411T>A
  hgvsp: ENST00000361473.5:c.411T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.143T>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.194T>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.780T>A
  hgvsp: ENST00000352766.7:c.780T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.18T>A
  hgvsp: ENST00000396119.2:c.18T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.18T>A
  hgvsp: ENST00000356099.6:c.18T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.18T>A
  hgvsp: ENST00000389774.2:c.18T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.18T>A
  hgvsp: ENST00000447333.1:c.18T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.18T>A
  hgvsp: ENST00000336963.4:c.18T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.780T>A
  hgvsp: ENST00000517296.3:c.780T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.18T>A
  hgvsp: ENST00000412433.1:c.18T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 27359
  bin: 2.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 15108
  bin: 2.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 1.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Pro128Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

22-45182427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182427
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182427
    reference: chr 22
allele count: 4
allele frequency: 3.557769278662279e-5
allele num: 112430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.20C>T
  hgvsp: ENSP00000402775.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.20C>T
  hgvsp: ENSP00000379425.2:p.Ala7Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.20C>T
  hgvsp: ENSP00000374422.4:p.Ala7Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.181C>T
  hgvsp: ENSP00000425026.1:p.Ala61Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.20C>T
  hgvsp: ENSP00000348407.6:p.Ala7Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.413C>T
  hgvsp: ENSP00000354732.5:p.Ala138Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.20C>T
  hgvsp: ENSP00000403618.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.782C>T
  hgvsp: ENSP00000262731.11:p.Ala261Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.386C>T
  hgvsp: ENSP00000374423.5:p.Ala129Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.20C>T
  hgvsp: ENSP00000337287.4:p.Ala7Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.196C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.782C>T
  hgvsp: ENSP00000429240.3:p.Ala261Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.20C>T
  hgvsp: ENSP00000374424.2:p.Ala7Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.145C>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala129Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

22-45182428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182428
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182428
    reference: chr 22
allele count: 102
allele frequency: 9.048970901348474e-4
allele num: 112720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.182G>A
  hgvsp: ENST00000515632.1:c.182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.414G>A
  hgvsp: ENST00000361473.5:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.21G>A
  hgvsp: ENST00000396119.2:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.197G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.146G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.21G>A
  hgvsp: ENST00000447333.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.21G>A
  hgvsp: ENST00000389774.2:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.783G>A
  hgvsp: ENST00000352766.7:c.783G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.387G>A
  hgvsp: ENST00000389773.5:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.21G>A
  hgvsp: ENST00000336963.4:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.21G>A
  hgvsp: ENST00000356099.6:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.21G>A
  hgvsp: ENST00000412433.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.21G>A
  hgvsp: ENST00000389772.4:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.783G>A
  hgvsp: ENST00000517296.3:c.783G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28206
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala129Ala
num of homozygotes: 1
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

22-45182436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182436
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182436
    reference: chr 22
allele count: 9
allele frequency: 7.962910532276331e-5
allele num: 113024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.29C>T
  hgvsp: ENSP00000379425.2:p.Thr10Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.791C>T
  hgvsp: ENSP00000429240.3:p.Thr264Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.205C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.29C>T
  hgvsp: ENSP00000348407.6:p.Thr10Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.29C>T
  hgvsp: ENSP00000402775.1:p.Thr10Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.5C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.190C>T
  hgvsp: ENSP00000425026.1:p.Thr64Met
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.29C>T
  hgvsp: ENSP00000337287.4:p.Thr10Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.791C>T
  hgvsp: ENSP00000262731.11:p.Thr264Met
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.395C>T
  hgvsp: ENSP00000374423.5:p.Thr132Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.422C>T
  hgvsp: ENSP00000354732.5:p.Thr141Met
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.29C>T
  hgvsp: ENSP00000403618.1:p.Thr10Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.154C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.29C>T
  hgvsp: ENSP00000374424.2:p.Thr10Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.29C>T
  hgvsp: ENSP00000374422.4:p.Thr10Met
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29474
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15831
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr132Met
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

22-45182437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182437
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182437
    reference: chr 22
allele count: 2
allele frequency: 1.768628075202066e-5
allele num: 113082
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.792G>A
  hgvsp: ENST00000352766.7:c.792G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.30G>A
  hgvsp: ENST00000336963.4:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.30G>A
  hgvsp: ENST00000396119.2:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.155G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.30G>A
  hgvsp: ENST00000447333.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.30G>A
  hgvsp: ENST00000389774.2:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.30G>A
  hgvsp: ENST00000389772.4:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.191G>A
  hgvsp: ENST00000515632.1:c.191G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.30G>A
  hgvsp: ENST00000412433.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.792G>A
  hgvsp: ENST00000517296.3:c.792G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.423G>A
  hgvsp: ENST00000361473.5:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.206G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.396G>A
  hgvsp: ENST00000389773.5:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.30G>A
  hgvsp: ENST00000356099.6:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.6G>A
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29670
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr132Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

22-45182439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182439
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182439
    reference: chr 22
allele count: 1
allele frequency: 8.836420189452849e-6
allele num: 113168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.32G>A
  hgvsp: ENSP00000402775.1:p.Ser11Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.398G>A
  hgvsp: ENSP00000374423.5:p.Ser133Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.32G>A
  hgvsp: ENSP00000348407.6:p.Ser11Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.32G>A
  hgvsp: ENSP00000374424.2:p.Ser11Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.32G>A
  hgvsp: ENSP00000337287.4:p.Ser11Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.425G>A
  hgvsp: ENSP00000354732.5:p.Ser142Asn
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.32G>A
  hgvsp: ENSP00000379425.2:p.Ser11Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.794G>A
  hgvsp: ENSP00000429240.3:p.Ser265Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.794G>A
  hgvsp: ENSP00000262731.11:p.Ser265Asn
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.32G>A
  hgvsp: ENSP00000403618.1:p.Ser11Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.193G>A
  hgvsp: ENSP00000425026.1:p.Ser65Asn
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.208G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.157G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.32G>A
  hgvsp: ENSP00000374422.4:p.Ser11Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.8G>A
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15920
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser133Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

22-45182439-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182439
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182439
    reference: chr 22
allele count: 1
allele frequency: 8.836420189452849e-6
allele num: 113168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.32G>C
  hgvsp: ENSP00000402775.1:p.Ser11Thr
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.32G>C
  hgvsp: ENSP00000379425.2:p.Ser11Thr
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.32G>C
  hgvsp: ENSP00000403618.1:p.Ser11Thr
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.32G>C
  hgvsp: ENSP00000374424.2:p.Ser11Thr
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.425G>C
  hgvsp: ENSP00000354732.5:p.Ser142Thr
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.32G>C
  hgvsp: ENSP00000374422.4:p.Ser11Thr
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.794G>C
  hgvsp: ENSP00000262731.11:p.Ser265Thr
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.32G>C
  hgvsp: ENSP00000348407.6:p.Ser11Thr
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.157G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.208G>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.32G>C
  hgvsp: ENSP00000337287.4:p.Ser11Thr
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.193G>C
  hgvsp: ENSP00000425026.1:p.Ser65Thr
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.8G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.398G>C
  hgvsp: ENSP00000374423.5:p.Ser133Thr
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.794G>C
  hgvsp: ENSP00000429240.3:p.Ser265Thr
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser133Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-45182446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182446
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182446
    reference: chr 22
allele count: 6
allele frequency: 5.321696556862328e-5
allele num: 112746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.39G>A
  hgvsp: ENST00000447333.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.801G>A
  hgvsp: ENST00000352766.7:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.15G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.39G>A
  hgvsp: ENST00000389772.4:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.432G>A
  hgvsp: ENST00000361473.5:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.39G>A
  hgvsp: ENST00000396119.2:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.200G>A
  hgvsp: ENST00000515632.1:c.200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.164G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.39G>A
  hgvsp: ENST00000412433.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.39G>A
  hgvsp: ENST00000336963.4:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.39G>A
  hgvsp: ENST00000389774.2:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.215G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.405G>A
  hgvsp: ENST00000389773.5:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.39G>A
  hgvsp: ENST00000356099.6:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.801G>A
  hgvsp: ENST00000517296.3:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29102
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro135Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

22-45182449-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182449
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182449
    reference: chr 22
allele count: 1
allele frequency: 8.859279209043553e-6
allele num: 112876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.435C>T
  hgvsp: ENST00000361473.5:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.804C>T
  hgvsp: ENST00000352766.7:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.203C>T
  hgvsp: ENST00000515632.1:c.203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.18C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.42C>T
  hgvsp: ENST00000389774.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.42C>T
  hgvsp: ENST00000412433.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.42C>T
  hgvsp: ENST00000336963.4:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.408C>T
  hgvsp: ENST00000389773.5:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.218C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.42C>T
  hgvsp: ENST00000389772.4:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.42C>T
  hgvsp: ENST00000396119.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.167C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.804C>T
  hgvsp: ENST00000517296.3:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.42C>T
  hgvsp: ENST00000447333.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.42C>T
  hgvsp: ENST00000356099.6:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe136Phe
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

22-45182452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182452
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182452
    reference: chr 22
allele count: 3
allele frequency: 2.664251079021687e-5
allele num: 112602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.170C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.411C>T
  hgvsp: ENST00000389773.5:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.45C>T
  hgvsp: ENST00000389774.2:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.807C>T
  hgvsp: ENST00000517296.3:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.807C>T
  hgvsp: ENST00000352766.7:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.438C>T
  hgvsp: ENST00000361473.5:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.45C>T
  hgvsp: ENST00000447333.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.45C>T
  hgvsp: ENST00000336963.4:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.206C>T
  hgvsp: ENST00000515632.1:c.206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.45C>T
  hgvsp: ENST00000356099.6:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.21C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.45C>T
  hgvsp: ENST00000389772.4:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.45C>T
  hgvsp: ENST00000412433.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.221C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.45C>T
  hgvsp: ENST00000396119.2:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr137Tyr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

22-45182453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182453
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182453
    reference: chr 22
allele count: 57
allele frequency: 5.068108261905609e-4
allele num: 112468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.46G>A
  hgvsp: ENSP00000374422.4:p.Asp16Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.808G>A
  hgvsp: ENSP00000429240.3:p.Asp270Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.171G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.46G>A
  hgvsp: ENSP00000403618.1:p.Asp16Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.46G>A
  hgvsp: ENSP00000379425.2:p.Asp16Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.46G>A
  hgvsp: ENSP00000402775.1:p.Asp16Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.808G>A
  hgvsp: ENSP00000262731.11:p.Asp270Asn
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.412G>A
  hgvsp: ENSP00000374423.5:p.Asp138Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.207G>A
  hgvsp: ENSP00000425026.1:p.Asp70Asn
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.439G>A
  hgvsp: ENSP00000354732.5:p.Asp147Asn
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.46G>A
  hgvsp: ENSP00000348407.6:p.Asp16Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.222G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.46G>A
  hgvsp: ENSP00000337287.4:p.Asp16Asn
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.22G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.46G>A
  hgvsp: ENSP00000374424.2:p.Asp16Asn
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 16068
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp138Asn
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

22-45182453-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182453
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182453
    reference: chr 22
allele count: 1
allele frequency: 8.891418003343173e-6
allele num: 112468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.222G>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.46G>C
  hgvsp: ENSP00000379425.2:p.Asp16His
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.46G>C
  hgvsp: ENSP00000337287.4:p.Asp16His
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.808G>C
  hgvsp: ENSP00000262731.11:p.Asp270His
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.412G>C
  hgvsp: ENSP00000374423.5:p.Asp138His
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.439G>C
  hgvsp: ENSP00000354732.5:p.Asp147His
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.46G>C
  hgvsp: ENSP00000402775.1:p.Asp16His
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.808G>C
  hgvsp: ENSP00000429240.3:p.Asp270His
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.46G>C
  hgvsp: ENSP00000374422.4:p.Asp16His
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.46G>C
  hgvsp: ENSP00000403618.1:p.Asp16His
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.207G>C
  hgvsp: ENSP00000425026.1:p.Asp70His
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.171G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.46G>C
  hgvsp: ENSP00000374424.2:p.Asp16His
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.46G>C
  hgvsp: ENSP00000348407.6:p.Asp16His
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.22G>C
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp138His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/22-45182454-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182454
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182454
    reference: chr 22
allele count: 1
allele frequency: 8.885413704862098e-6
allele num: 112544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.23A>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.47A>C
  hgvsp: ENSP00000403618.1:p.Asp16Ala
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.47A>C
  hgvsp: ENSP00000337287.4:p.Asp16Ala
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.413A>C
  hgvsp: ENSP00000374423.5:p.Asp138Ala
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.809A>C
  hgvsp: ENSP00000262731.11:p.Asp270Ala
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.47A>C
  hgvsp: ENSP00000374424.2:p.Asp16Ala
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.47A>C
  hgvsp: ENSP00000348407.6:p.Asp16Ala
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.809A>C
  hgvsp: ENSP00000429240.3:p.Asp270Ala
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.172A>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.47A>C
  hgvsp: ENSP00000379425.2:p.Asp16Ala
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.440A>C
  hgvsp: ENSP00000354732.5:p.Asp147Ala
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.208A>C
  hgvsp: ENSP00000425026.1:p.Asp70Ala
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.47A>C
  hgvsp: ENSP00000374422.4:p.Asp16Ala
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.47A>C
  hgvsp: ENSP00000402775.1:p.Asp16Ala
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.223A>C
  variant of: http://identifiers.org/hgnc/34512
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp138Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

22-45182455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182455
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182455
    reference: chr 22
allele count: 1
allele frequency: 8.886203280786251e-6
allele num: 112534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.441C>T
  hgvsp: ENST00000361473.5:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.48C>T
  hgvsp: ENST00000396119.2:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.810C>T
  hgvsp: ENST00000517296.3:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.24C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.414C>T
  hgvsp: ENST00000389773.5:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.224C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.173C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.48C>T
  hgvsp: ENST00000356099.6:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.48C>T
  hgvsp: ENST00000389772.4:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.48C>T
  hgvsp: ENST00000336963.4:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.209C>T
  hgvsp: ENST00000515632.1:c.209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.48C>T
  hgvsp: ENST00000389774.2:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.48C>T
  hgvsp: ENST00000412433.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.48C>T
  hgvsp: ENST00000447333.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.810C>T
  hgvsp: ENST00000352766.7:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16065
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp138Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-45182456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182456
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182456
    reference: chr 22
allele count: 34
allele frequency: 3.023082121136679e-4
allele num: 112468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.811G>A
  hgvsp: ENSP00000429240.3:p.Val271Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.442G>A
  hgvsp: ENSP00000354732.5:p.Val148Met
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.49G>A
  hgvsp: ENSP00000337287.4:p.Val17Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.225G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.49G>A
  hgvsp: ENSP00000374422.4:p.Val17Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.210G>A
  hgvsp: ENSP00000425026.1:p.Val71Met
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.49G>A
  hgvsp: ENSP00000379425.2:p.Val17Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.49G>A
  hgvsp: ENSP00000402775.1:p.Val17Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.49G>A
  hgvsp: ENSP00000374424.2:p.Val17Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.49G>A
  hgvsp: ENSP00000348407.6:p.Val17Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.25G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.811G>A
  hgvsp: ENSP00000262731.11:p.Val271Met
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.415G>A
  hgvsp: ENSP00000374423.5:p.Val139Met
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.174G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.49G>A
  hgvsp: ENSP00000403618.1:p.Val17Met
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29209
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16076
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Val139Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

22-45182466-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182466
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182466
    reference: chr 22
allele count: 1
allele frequency: 8.94566403664144e-6
allele num: 111786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.59A>G
  hgvsp: ENSP00000379425.2:p.His20Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.452A>G
  hgvsp: ENSP00000354732.5:p.His151Arg
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.59A>G
  hgvsp: ENSP00000374422.4:p.His20Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.425A>G
  hgvsp: ENSP00000374423.5:p.His142Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.235A>G
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.59A>G
  hgvsp: ENSP00000402775.1:p.His20Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.821A>G
  hgvsp: ENSP00000262731.11:p.His274Arg
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.59A>G
  hgvsp: ENSP00000403618.1:p.His20Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.59A>G
  hgvsp: ENSP00000337287.4:p.His20Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.59A>G
  hgvsp: ENSP00000374424.2:p.His20Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.220A>G
  hgvsp: ENSP00000425026.1:p.His74Arg
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.821A>G
  hgvsp: ENSP00000429240.3:p.His274Arg
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.184A>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.35A>G
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.59A>G
  hgvsp: ENSP00000348407.6:p.His20Arg
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His142Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

22-45182467-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182467
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182467
    reference: chr 22
allele count: 1
allele frequency: 8.958004873154651e-6
allele num: 111632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.60T>C
  hgvsp: ENST00000389772.4:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.822T>C
  hgvsp: ENST00000517296.3:c.822T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.60T>C
  hgvsp: ENST00000389774.2:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.36T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.236T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.426T>C
  hgvsp: ENST00000389773.5:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.60T>C
  hgvsp: ENST00000396119.2:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.453T>C
  hgvsp: ENST00000361473.5:c.453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.221T>C
  hgvsp: ENST00000515632.1:c.221T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.60T>C
  hgvsp: ENST00000412433.1:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.60T>C
  hgvsp: ENST00000336963.4:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.822T>C
  hgvsp: ENST00000352766.7:c.822T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.60T>C
  hgvsp: ENST00000356099.6:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.60T>C
  hgvsp: ENST00000447333.1:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.185T>C
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His142His
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

22-45182469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182469
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182469
    reference: chr 22
allele count: 2
allele frequency: 1.802711277761754e-5
allele num: 110944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.62G>A
  hgvsp: ENSP00000348407.6:p.Gly21Asp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.824G>A
  hgvsp: ENSP00000429240.3:p.Gly275Asp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.238G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.428G>A
  hgvsp: ENSP00000374423.5:p.Gly143Asp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.62G>A
  hgvsp: ENSP00000403618.1:p.Gly21Asp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.62G>A
  hgvsp: ENSP00000374422.4:p.Gly21Asp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.455G>A
  hgvsp: ENSP00000354732.5:p.Gly152Asp
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.62G>A
  hgvsp: ENSP00000337287.4:p.Gly21Asp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.62G>A
  hgvsp: ENSP00000379425.2:p.Gly21Asp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.62G>A
  hgvsp: ENSP00000374424.2:p.Gly21Asp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.223G>A
  hgvsp: ENSP00000425026.1:p.Gly75Asp
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.187G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.38G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.62G>A
  hgvsp: ENSP00000402775.1:p.Gly21Asp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.824G>A
  hgvsp: ENSP00000262731.11:p.Gly275Asp
  variant of: http://identifiers.org/hgnc/34512
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly143Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

22-45182470-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182470
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182470
    reference: chr 22
allele count: 66
allele frequency: 5.942947702060222e-4
allele num: 111056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.224C>T
  hgvsp: ENST00000515632.1:c.224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.63C>T
  hgvsp: ENST00000356099.6:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.63C>T
  hgvsp: ENST00000396119.2:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.63C>T
  hgvsp: ENST00000389774.2:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.456C>T
  hgvsp: ENST00000361473.5:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.63C>T
  hgvsp: ENST00000412433.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.63C>T
  hgvsp: ENST00000447333.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.63C>T
  hgvsp: ENST00000389772.4:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.429C>T
  hgvsp: ENST00000389773.5:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.825C>T
  hgvsp: ENST00000352766.7:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.63C>T
  hgvsp: ENST00000336963.4:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.825C>T
  hgvsp: ENST00000517296.3:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.239C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.188C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.39C>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28392
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly143Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

22-45182473-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182473
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182473
    reference: chr 22
allele count: 1
allele frequency: 9.045189768081334e-6
allele num: 110556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.66T>C
  hgvsp: ENST00000412433.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.66T>C
  hgvsp: ENST00000336963.4:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.459T>C
  hgvsp: ENST00000361473.5:c.459T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.66T>C
  hgvsp: ENST00000389772.4:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.432T>C
  hgvsp: ENST00000389773.5:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.828T>C
  hgvsp: ENST00000352766.7:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.66T>C
  hgvsp: ENST00000389774.2:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.42T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.66T>C
  hgvsp: ENST00000447333.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.66T>C
  hgvsp: ENST00000356099.6:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.66T>C
  hgvsp: ENST00000396119.2:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.227T>C
  hgvsp: ENST00000515632.1:c.227T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.828T>C
  hgvsp: ENST00000517296.3:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.242T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.191T>C
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile144Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

22-45182484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182484
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182484
    reference: chr 22
allele count: 1
allele frequency: 9.337765659433012e-6
allele num: 107092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.470C>T
  hgvsp: ENSP00000354732.5:p.Ala157Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.839C>T
  hgvsp: ENSP00000429240.3:p.Ala280Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.253C>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.202C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.77C>T
  hgvsp: ENSP00000379425.2:p.Ala26Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.77C>T
  hgvsp: ENSP00000337287.4:p.Ala26Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.238C>T
  hgvsp: ENSP00000425026.1:p.Ala80Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.77C>T
  hgvsp: ENSP00000403618.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.77C>T
  hgvsp: ENSP00000374424.2:p.Ala26Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.77C>T
  hgvsp: ENSP00000374422.4:p.Ala26Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.443C>T
  hgvsp: ENSP00000374423.5:p.Ala148Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.53C>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.77C>T
  hgvsp: ENSP00000348407.6:p.Ala26Val
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.839C>T
  hgvsp: ENSP00000262731.11:p.Ala280Val
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.77C>T
  hgvsp: ENSP00000402775.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14663
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala148Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

22-45182486-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182486
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182486
    reference: chr 22
allele count: 1
allele frequency: 9.364698831285586e-6
allele num: 106784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.240G>T
  hgvsp: ENSP00000425026.1:p.Gly81Trp
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.79G>T
  hgvsp: ENSP00000374424.2:p.Gly27Trp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.79G>T
  hgvsp: ENSP00000379425.2:p.Gly27Trp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.472G>T
  hgvsp: ENSP00000354732.5:p.Gly158Trp
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.79G>T
  hgvsp: ENSP00000348407.6:p.Gly27Trp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.445G>T
  hgvsp: ENSP00000374423.5:p.Gly149Trp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.79G>T
  hgvsp: ENSP00000337287.4:p.Gly27Trp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.79G>T
  hgvsp: ENSP00000374422.4:p.Gly27Cys
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.79G>T
  hgvsp: ENSP00000402775.1:p.Gly27Trp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.204G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.79G>T
  hgvsp: ENSP00000403618.1:p.Gly27Trp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.841G>T
  hgvsp: ENSP00000429240.3:p.Gly281Trp
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.55G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.255G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.841G>T
  hgvsp: ENSP00000262731.11:p.Gly281Trp
  variant of: http://identifiers.org/hgnc/34512
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly149Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

22-45182487-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182487
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182487
    reference: chr 22
allele count: 1
allele frequency: 9.396553344233335e-6
allele num: 106422
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.841+1G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.240+1G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.79+1G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.79+1G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.79+1G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.841+1G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.79+1G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.472+1G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.55+1G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.79+1G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.79+1G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.255+1G>T
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.445+1G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.79+1G>T
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.204+1G>T
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.445+1G>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

22-45182499-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182499
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182497
    reference: chr 22
allele count: 4
allele frequency: 3.959768749505029e-5
allele num: 101016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.79+14_79+15delTG
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.445+14_445+15delTG
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.79+14_79+15delTG
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.841+14_841+15delTG
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.204+14_204+15delTG
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.79+14_79+15delTG
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.240+14_240+15delTG
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.79+14_79+15delTG
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.55+14_55+15delTG
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.79+14_79+15delTG
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.472+14_472+15delTG
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.79+14_79+15delTG
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.841+14_841+15delTG
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.255+14_255+15delTG
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.79+14_79+15delTG
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 18389
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: CTG
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

22-45182514-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182514
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182514
    reference: chr 22
allele count: 2
allele frequency: 2.072839582944676e-5
allele num: 96486
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.841+28G>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.472+28G>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.79+28G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.79+28G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.79+28G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.240+28G>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.841+28G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.255+28G>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.79+28G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.55+28G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.79+28G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.204+28G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.79+28G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.79+28G>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.445+28G>C
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24566
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-45182519-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182519
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182519
    reference: chr 22
allele count: 4
allele frequency: 4.215585017810847e-5
allele num: 94886
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.841+33T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.79+33T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.445+33T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.240+33T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.79+33T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.255+33T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.79+33T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.472+33T>C
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.79+33T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.55+33T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.79+33T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.79+33T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.79+33T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.841+33T>C
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.204+33T>C
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10322
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10981
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25252
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

22-45182520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45182520
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45182520
    reference: chr 22
allele count: 3
allele frequency: 3.206567049317001e-5
allele num: 93558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000425026
  ensembl transcript: ENST00000515632
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000515632.1:c.240+34G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000348407
  ensembl transcript: ENST00000356099
  gene symbol: ARHGAP8
  hgvsc: ENST00000356099.6:c.79+34G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000460809
  gene symbol: ARHGAP8
  hgvsc: ENST00000460809.1:n.204+34G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000403618
  ensembl transcript: ENST00000447333
  gene symbol: ARHGAP8
  hgvsc: ENST00000447333.1:c.79+34G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374422
  ensembl transcript: ENST00000389772
  gene symbol: ARHGAP8
  hgvsc: ENST00000389772.4:c.79+34G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000379425
  ensembl transcript: ENST00000396119
  gene symbol: ARHGAP8
  hgvsc: ENST00000396119.2:c.79+34G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000402775
  ensembl transcript: ENST00000412433
  gene symbol: ARHGAP8
  hgvsc: ENST00000412433.1:c.79+34G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374424
  ensembl transcript: ENST00000389774
  gene symbol: ARHGAP8
  hgvsc: ENST00000389774.2:c.79+34G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000354732
  ensembl transcript: ENST00000361473
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000361473.5:c.472+34G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl transcript: ENST00000495219
  gene symbol: ARHGAP8
  hgvsc: ENST00000495219.1:n.55+34G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000337287
  ensembl transcript: ENST00000336963
  gene symbol: ARHGAP8
  hgvsc: ENST00000336963.4:c.79+34G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000429240
  ensembl transcript: ENST00000517296
  gene symbol: ARHGAP8
  hgvsc: ENST00000517296.3:c.841+34G>A
  variant of: http://identifiers.org/hgnc/677
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl transcript: ENST00000495250
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000495250.1:n.255+34G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248405
  ensembl protein: ENSP00000262731
  ensembl transcript: ENST00000352766
  gene symbol: PRR5-ARHGAP8
  hgvsc: ENST00000352766.7:c.841+34G>A
  variant of: http://identifiers.org/hgnc/34512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241484
  ensembl protein: ENSP00000374423
  ensembl transcript: ENST00000389773
  gene symbol: ARHGAP8
  hgvsc: ENST00000389773.5:c.445+34G>A
  variant of: http://identifiers.org/hgnc/677
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11489
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24994
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

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

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 4.75e1
variant carriers: 7

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 670
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1301
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 5194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3299
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3485
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1947
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 412
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1329
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4415
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 21703
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2081
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2929
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3441
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1777
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 680
bin: 9.75e1
variant carriers: 204

GenotypeQuality
all individuals: 906
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1948
bin: 5.25e1
variant carriers: 6

South Asian
type: Population
allele count: 148
allele frequency: 1.568128840856113e-2
allele num: 9438
num of homozygotes: 2

African
type: Population
allele count: 2
allele frequency: 2.521432173474534e-4
allele num: 7932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.392757660167131e-3
allele num: 718
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 55
allele frequency: 9.515241687138853e-4
allele num: 57802
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

DP
type: SiteQuality
SIO_000300: 1.221386e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.52e1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e0

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

GenotypeDepth
all individuals: 4369
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 315
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3485
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21703
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4415
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3299
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.730043943116155e-5
allele num: 57802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

QD
type: SiteQuality
SIO_000300: 1.52e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.06e0

DP
type: SiteQuality
SIO_000300: 1.221386e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeDepth
all individuals: 7832
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5134
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3373
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3982
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4272
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3251
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 504
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2967
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.734665556480711e-5
allele num: 57648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.931e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.25e-1

DP
type: SiteQuality
SIO_000300: 1.221366e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeDepth
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5166
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7043
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8015
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 554
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 192
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21094
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1530
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1081
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6639
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1628
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 1349
bin: 6.25e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.287638668779715e-3
allele num: 10096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.72737686139748e-4
allele num: 1746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.9194e5

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.01e-2

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4131
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2239
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7330
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21740
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4568
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 155
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6653
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1480
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7747
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 144
bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 1.98609731876862e-4
allele num: 10070
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2404
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1758
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.5600624024961e-4
allele num: 6410
num of homozygotes: 0

VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-2

DP
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SIO_000300: 4.94279e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

GenotypeDepth
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variant carriers: 29

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 21

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 237

GenotypeQuality
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bin: 8.25e1
variant carriers: 22

Other
type: Population
allele count: 2
allele frequency: 8.403361344537815e-3
allele num: 238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1778
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 1.25e-2
allele num: 560
num of homozygotes: 0

African
type: Population
allele count: 232
allele frequency: 9.446254071661238e-2
allele num: 2456
num of homozygotes: 9

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

South Asian
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allele count: 1
allele frequency: 1.522533495736906e-4
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 1.936108422071636e-4
allele num: 10330
num of homozygotes: 0

MQRankSum
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MQ
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SIO_000300: 6.0e1

FS
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10520
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 1.5220700152207e-4
allele num: 6570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQ
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SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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DP
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SIO_000300: 5.3285e5

BaseQRankSum
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SIO_000300: -2.341e0

InbreedingCoeff
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SIO_000300: -4.6e-2

QD
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SIO_000300: 9.44e0

MQRankSum
type: SiteQuality
SIO_000300: -1.418e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 233
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11640
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.008e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
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SIO_000300: 5.685e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 5.95279e5

InbreedingCoeff
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SIO_000300: -3.86e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.596000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 4.088307440719542e-4
allele num: 2446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1886
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11856
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.73e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 9.56e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

DP
type: SiteQuality
SIO_000300: 6.00826e5

MQ
type: SiteQuality
SIO_000300: 5.705e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2370
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12008
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.340482573726542e-3
allele num: 746
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.55e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.149e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.858e0

ClippingRankSum
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SIO_000300: -1.115e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.12036e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeDepth
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variant carriers: 116

GenotypeDepth
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variant carriers: 362

GenotypeDepth
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GenotypeDepth
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variant carriers: 100

GenotypeDepth
all individuals: 79
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GenotypeDepth
all individuals: 241
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variant carriers: 91

GenotypeQuality
all individuals: 635
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variant carriers: 273

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 402
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1240
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12093
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GenotypeQuality
all individuals: 605
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variant carriers: 65

Other
type: Population
allele count: 84
allele frequency: 2.530120481927711e-1
allele num: 332
num of homozygotes: 7

East Asian
type: Population
allele count: 321
allele frequency: 2.154362416107383e-1
allele num: 1490
num of homozygotes: 16

European (Non-Finnish)
type: Population
allele count: 5065
allele frequency: 2.715526485095432e-1
allele num: 18652
num of homozygotes: 370

South Asian
type: Population
allele count: 1640
allele frequency: 1.976856316297011e-1
allele num: 8296
num of homozygotes: 151

European (Finnish)
type: Population
allele count: 512
allele frequency: 2.101806239737274e-1
allele num: 2436
num of homozygotes: 27

African
type: Population
allele count: 1651
allele frequency: 4.119261477045908e-1
allele num: 4008
num of homozygotes: 259

Latino
type: Population
allele count: 551
allele frequency: 3.331318016928658e-1
allele num: 1654
num of homozygotes: 21

QD
type: SiteQuality
SIO_000300: 2.131e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.521e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.59e-2

DP
type: SiteQuality
SIO_000300: 7.20514e5

ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 950
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1502
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele num: 688
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 7.34753e5

MQ
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SIO_000300: 6.0e1

VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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SIO_000300: -1.62e-2

ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 2.254283137962128e-4
allele num: 8872
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1806
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 4.569548528605373e-5
allele num: 21884
num of homozygotes: 0

African
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
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QD
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.61e-2

DP
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SIO_000300: 7.54563e5

MQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 1
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allele num: 1886
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 4.462293618920125e-4
allele num: 8964
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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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

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

South Asian
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allele num: 9086
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 22924
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East Asian
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Other
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 2.201188641866608e-4
allele num: 9086
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

Other
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East Asian
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allele count: 21
allele frequency: 1.032448377581121e-2
allele num: 2034
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22924
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European (Finnish)
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African
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FS
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DP
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 4.09970482125287e-5
allele num: 24392
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2556
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
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SIO_000300: 1.47e0

ReadPosRankSum
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SIO_000300: 6.27e-1

FS
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InbreedingCoeff
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SIO_000300: -1.22e-2

QD
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SIO_000300: 1.478e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.89455e5

ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 6
allele frequency: 1.578116780641767e-3
allele num: 3802
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3062
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3306
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.280839895013123e-5
allele num: 30480
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -8.699999999999999e-3

VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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BaseQRankSum
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SIO_000300: -2.072e0

DP
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SIO_000300: 8.77611e5

FS
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ClippingRankSum
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SIO_000300: -3.61e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3410
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.691800736576855e-5
allele num: 10318
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.218855632720791e-5
allele num: 32542
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.8136e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

InbreedingCoeff
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BaseQRankSum
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SIO_000300: -1.138e0

DP
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SIO_000300: 9.12347e5

VQSLOD
type: SiteQuality
SIO_000300: -3.053e0

MQRankSum
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.808e1

QD
type: SiteQuality
SIO_000300: 4.7e-1

GenotypeDepth
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variant carriers: 1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.004988280545706e-5
allele num: 33278
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.558401835213153e-5
allele num: 10462
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3384
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.133e0

FS
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SIO_000300: 1.06e0

VQSLOD
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SIO_000300: 6.63e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.151e1

DP
type: SiteQuality
SIO_000300: 9.31958e5

GenotypeDepth
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variant carriers: 0

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

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

African
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allele count: 2
allele frequency: 3.732736095558044e-4
allele num: 5358
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.91579192908794e-5
allele num: 34296
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
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allele num: 5150
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 5472
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 2.365184484389782e-4
allele num: 4228
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 2.17e0

DP
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SIO_000300: 9.81601e5

QD
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 3.05e0

ClippingRankSum
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SIO_000300: 3.61e-1

ReadPosRankSum
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SIO_000300: 2.96e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 17
allele frequency: 2.902014339364971e-3
allele num: 5858
num of homozygotes: 0

European (Non-Finnish)
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allele count: 134
allele frequency: 3.442252363337443e-3
allele num: 38928
num of homozygotes: 0

South Asian
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allele frequency: 8.843296781039972e-5
allele num: 11308
num of homozygotes: 0

Other
type: Population
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allele frequency: 1.937984496124031e-3
allele num: 516
num of homozygotes: 0

Latino
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allele count: 14
allele frequency: 2.400548696844993e-3
allele num: 5832
num of homozygotes: 0

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

European (Finnish)
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allele count: 1
allele frequency: 2.757859900717044e-4
allele num: 3626
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.739e1

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.913763451427448e-5
allele num: 40702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

ClippingRankSum
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SIO_000300: -3.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.405e1

FS
type: SiteQuality
SIO_000300: 1.725e0

MQRankSum
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SIO_000300: 2.44e-1

BaseQRankSum
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SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

DP
type: SiteQuality
SIO_000300: 1.03125e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

GenotypeDepth
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variant carriers: 1

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

South Asian
type: Population
allele count: 2
allele frequency: 1.661129568106312e-4
allele num: 12040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44826
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ReadPosRankSum
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DP
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SIO_000300: 1.089197e6

MQRankSum
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SIO_000300: -6.01e-1

BaseQRankSum
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SIO_000300: -2.578e0

QD
type: SiteQuality
SIO_000300: 1.027e1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 1
allele frequency: 2.148689299527288e-4
allele num: 4654
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.55e-1

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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 666
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.967729240456513e-5
allele num: 50820
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5246
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.127583749109053e-5
allele num: 14030
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56538
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.297601e6

FS
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SIO_000300: 9.547000000000001e0

BaseQRankSum
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SIO_000300: -2.817e0

VQSLOD
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ClippingRankSum
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SIO_000300: 1.91e-1

MQ
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MQRankSum
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InbreedingCoeff
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SIO_000300: -2.2e-3

QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.791632708503124e-5
allele num: 58896
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5612
num of homozygotes: 0

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

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

ClippingRankSum
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SIO_000300: -5.8e-2

BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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SIO_000300: -4.9e-2

InbreedingCoeff
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MQ
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SIO_000300: 5.907e1

DP
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SIO_000300: 1.345444e6

QD
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SIO_000300: 1.775e1

GenotypeDepth
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variant carriers: 2

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7930
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.749518834204015e-4
allele num: 14548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.689874273354063e-5
allele num: 59176
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.351935e6

QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1099
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10480
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.493143854400399e-4
allele num: 8022
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59698
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.6e0

DP
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ClippingRankSum
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SIO_000300: 4.33e-1

ReadPosRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10572
num of homozygotes: 0

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

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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.661074382910867e-5
allele num: 60202
num of homozygotes: 0

MQ
type: SiteQuality
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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SIO_000300: 2.15e0

ClippingRankSum
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SIO_000300: 2.51e0

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 146

East Asian
type: Population
allele count: 22
allele frequency: 4.089219330855019e-3
allele num: 5380
num of homozygotes: 0

European (Finnish)
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allele count: 30
allele frequency: 1.13464447806354e-2
allele num: 2644
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African
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allele count: 57
allele frequency: 1.037495449581361e-2
allele num: 5494
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European (Non-Finnish)
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allele count: 128
allele frequency: 2.928793703093539e-3
allele num: 43704
num of homozygotes: 0

South Asian
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allele count: 9
allele frequency: 7.49375520399667e-4
allele num: 12010
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Latino
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allele count: 23
allele frequency: 3.847440615590498e-3
allele num: 5978
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Other
type: Population
allele count: 2
allele frequency: 3.64963503649635e-3
allele num: 548
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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SIO_000300: 1.35649e2

ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 71
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.288120080541827e-5
allele num: 43704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5978
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.858736059479554e-4
allele num: 5380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2644
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.492e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.807e1

DP
type: SiteQuality
SIO_000300: 1.557061e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.09e-2

FS
type: SiteQuality
SIO_000300: 1.35649e2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e0

MQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.984999999999999e1

QD
type: SiteQuality
SIO_000300: 3.16e0

GenotypeDepth
all individuals: 399
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4329
bin: 1.25e1
variant carriers: 13

GenotypeDepth
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 118
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variant carriers: 3

GenotypeDepth
all individuals: 3463
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variant carriers: 19

GenotypeDepth
all individuals: 162
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variant carriers: 7

GenotypeDepth
all individuals: 14631
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variant carriers: 20

GenotypeDepth
all individuals: 246
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variant carriers: 8

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 417
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variant carriers: 3

GenotypeQuality
all individuals: 835
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1178
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1732
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1418
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 5756
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1943
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variant carriers: 1

GenotypeQuality
all individuals: 871
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variant carriers: 1

GenotypeQuality
all individuals: 475
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
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variant carriers: 128

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4118
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variant carriers: 2

GenotypeQuality
all individuals: 149
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variant carriers: 1

GenotypeQuality
all individuals: 1838
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variant carriers: 1

GenotypeQuality
all individuals: 771
bin: 7.5e0
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GenotypeQuality
all individuals: 2020
bin: 3.25e1
variant carriers: 4

East Asian
type: Population
allele count: 8
allele frequency: 9.932952570151478e-4
allele num: 8054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 19
allele frequency: 3.563390847711928e-3
allele num: 5332
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.329787234042553e-3
allele num: 752
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.841447243796173e-4
allele num: 10558
num of homozygotes: 0

African
type: Population
allele count: 44
allele frequency: 5.1752528816749e-3
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 78
allele frequency: 1.320243737305349e-3
allele num: 59080
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.338867318248761e-4
allele num: 14938
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.426e0

MQRankSum
type: SiteQuality
SIO_000300: -1.303e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 1.22362e2

MQ
type: SiteQuality
SIO_000300: 5.717e1

DP
type: SiteQuality
SIO_000300: 1.404102e6

QD
type: SiteQuality
SIO_000300: 4.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.981e0

VQSLOD
type: SiteQuality
SIO_000300: -7.364e1

GenotypeDepth
all individuals: 152
bin: 6.25e1
variant carriers: 6

GenotypeDepth
all individuals: 406
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variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 25667
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variant carriers: 21

GenotypeDepth
all individuals: 583
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variant carriers: 12

GenotypeDepth
all individuals: 79
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variant carriers: 2

GenotypeDepth
all individuals: 115
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variant carriers: 2

GenotypeDepth
all individuals: 3999
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variant carriers: 0

GenotypeDepth
all individuals: 158
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variant carriers: 7

GenotypeQuality
all individuals: 1032
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 401
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variant carriers: 0

GenotypeQuality
all individuals: 1893
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variant carriers: 1

GenotypeQuality
all individuals: 1127
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 656
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 409
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variant carriers: 2

GenotypeQuality
all individuals: 662
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1974
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variant carriers: 4

GenotypeQuality
all individuals: 5922
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variant carriers: 1

GenotypeQuality
all individuals: 1706
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 33161
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 137
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 896
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variant carriers: 1

GenotypeQuality
all individuals: 1015
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 552
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variant carriers: 0

GenotypeQuality
all individuals: 4181
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1633
bin: 9.75e1
variant carriers: 128

GenotypeQuality
all individuals: 137
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variant carriers: 1

GenotypeQuality
all individuals: 1351
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 3.75e1
variant carriers: 1

Latino
type: Population
allele count: 3
allele frequency: 2.803214352457484e-4
allele num: 10702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 19
allele frequency: 3.408683171869394e-3
allele num: 5574
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.326611833377554e-4
allele num: 15076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 78
allele frequency: 1.296801223648334e-3
allele num: 60148
num of homozygotes: 0

African
type: Population
allele count: 44
allele frequency: 5.052824988516307e-3
allele num: 8708
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.828009828009828e-4
allele num: 8140
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.282051282051282e-3
allele num: 780
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

MQRankSum
type: SiteQuality
SIO_000300: -1.375e0

DP
type: SiteQuality
SIO_000300: 1.394876e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

MQ
type: SiteQuality
SIO_000300: 5.731e1

QD
type: SiteQuality
SIO_000300: 4.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.463e0

FS
type: SiteQuality
SIO_000300: 1.14637e2

VQSLOD
type: SiteQuality
SIO_000300: -6.553e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e0

GenotypeDepth
all individuals: 130
bin: 6.75e1
variant carriers: 6

GenotypeDepth
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3043
bin: 3.25e1
variant carriers: 54

GenotypeDepth
all individuals: 111
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variant carriers: 7

GenotypeDepth
all individuals: 457
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variant carriers: 54

GenotypeDepth
all individuals: 250
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variant carriers: 34

GenotypeDepth
all individuals: 75
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variant carriers: 0

GenotypeDepth
all individuals: 326
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variant carriers: 41

GenotypeDepth
all individuals: 202
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variant carriers: 12

GenotypeQuality
all individuals: 5781
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
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variant carriers: 2

GenotypeQuality
all individuals: 864
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variant carriers: 0

GenotypeQuality
all individuals: 37480
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variant carriers: 1

GenotypeQuality
all individuals: 358
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variant carriers: 1

GenotypeQuality
all individuals: 216
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variant carriers: 0

GenotypeQuality
all individuals: 738
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variant carriers: 0

GenotypeQuality
all individuals: 1635
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variant carriers: 0

GenotypeQuality
all individuals: 1530
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variant carriers: 1

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 1016
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variant carriers: 2

GenotypeQuality
all individuals: 133
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variant carriers: 3

GenotypeQuality
all individuals: 373
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variant carriers: 2

GenotypeQuality
all individuals: 4457
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variant carriers: 1

GenotypeQuality
all individuals: 1138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
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variant carriers: 415

GenotypeQuality
all individuals: 851
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variant carriers: 3

GenotypeQuality
all individuals: 362
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variant carriers: 3

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1500
bin: 3.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 5
allele frequency: 8.231807704972012e-4
allele num: 6074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 1.926959075059644e-3
allele num: 10898
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.208791208791209e-3
allele num: 9100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 363
allele frequency: 5.855783190837232e-3
allele num: 61990
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 1.377229800629591e-3
allele num: 15248
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.926108374384237e-3
allele num: 812
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

FS
type: SiteQuality
SIO_000300: 6.991e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.399987e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 15338
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 284
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 218
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variant carriers: 0

GenotypeDepth
all individuals: 73
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variant carriers: 0

GenotypeDepth
all individuals: 3872
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variant carriers: 0

GenotypeDepth
all individuals: 288
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variant carriers: 0

GenotypeDepth
all individuals: 44
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variant carriers: 0

GenotypeDepth
all individuals: 142
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GenotypeDepth
all individuals: 143
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variant carriers: 0

GenotypeQuality
all individuals: 1484
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variant carriers: 0

GenotypeQuality
all individuals: 37729
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variant carriers: 0

GenotypeQuality
all individuals: 232
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variant carriers: 0

GenotypeQuality
all individuals: 365
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variant carriers: 0

GenotypeQuality
all individuals: 154
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GenotypeQuality
all individuals: 830
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variant carriers: 0

GenotypeQuality
all individuals: 1018
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variant carriers: 0

GenotypeQuality
all individuals: 1597
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variant carriers: 0

GenotypeQuality
all individuals: 4463
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variant carriers: 0

GenotypeQuality
all individuals: 5745
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GenotypeQuality
all individuals: 1007
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variant carriers: 0

GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 115
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GenotypeQuality
all individuals: 1463
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GenotypeQuality
all individuals: 340
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GenotypeQuality
all individuals: 756
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variant carriers: 0

GenotypeQuality
all individuals: 127
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GenotypeQuality
all individuals: 833
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variant carriers: 0

GenotypeQuality
all individuals: 854
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variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10894
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.097453906935909e-4
allele num: 9112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.837617312219822e-5
allele num: 62014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15254
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 8.609999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

FS
type: SiteQuality
SIO_000300: 7.566e0

DP
type: SiteQuality
SIO_000300: 1.39935e6

GenotypeDepth
all individuals: 15442
bin: 2.75e1
variant carriers: 13

GenotypeDepth
all individuals: 373
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3023
bin: 3.25e1
variant carriers: 7

GenotypeDepth
all individuals: 76
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variant carriers: 0

GenotypeDepth
all individuals: 125
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variant carriers: 2

GenotypeDepth
all individuals: 55
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variant carriers: 0

GenotypeDepth
all individuals: 146
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variant carriers: 3

GenotypeDepth
all individuals: 290
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variant carriers: 2

GenotypeDepth
all individuals: 221
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variant carriers: 8

GenotypeQuality
all individuals: 5638
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GenotypeQuality
all individuals: 120
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variant carriers: 1

GenotypeQuality
all individuals: 696
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variant carriers: 0

GenotypeQuality
all individuals: 57
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GenotypeQuality
all individuals: 1574
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variant carriers: 92

GenotypeQuality
all individuals: 371
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GenotypeQuality
all individuals: 1401
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GenotypeQuality
all individuals: 167
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GenotypeQuality
all individuals: 354
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GenotypeQuality
all individuals: 125
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GenotypeQuality
all individuals: 349
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GenotypeQuality
all individuals: 1027
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GenotypeQuality
all individuals: 837
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variant carriers: 0

GenotypeQuality
all individuals: 700
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GenotypeQuality
all individuals: 867
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GenotypeQuality
all individuals: 1315
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GenotypeQuality
all individuals: 115
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variant carriers: 4

GenotypeQuality
all individuals: 38919
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variant carriers: 3

GenotypeQuality
all individuals: 4529
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1510
bin: 3.25e1
variant carriers: 1

Latino
type: Population
allele count: 4
allele frequency: 3.665017408832692e-4
allele num: 10914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15286
num of homozygotes: 0

African
type: Population
allele count: 95
allele frequency: 1.036439013746454e-2
allele num: 9166
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62128
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.41779497098646e-4
allele num: 8272
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.225490196078431e-3
allele num: 816
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.403291e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

QD
type: SiteQuality
SIO_000300: 1.033e1

GenotypeDepth
all individuals: 3006
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 42
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3985
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variant carriers: 1

GenotypeDepth
all individuals: 104
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variant carriers: 0

GenotypeDepth
all individuals: 385
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GenotypeDepth
all individuals: 55
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GenotypeDepth
all individuals: 73
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GenotypeDepth
all individuals: 289
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GenotypeDepth
all individuals: 76
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variant carriers: 0

GenotypeDepth
all individuals: 140
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variant carriers: 0

GenotypeDepth
all individuals: 123
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variant carriers: 0

GenotypeQuality
all individuals: 344
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GenotypeQuality
all individuals: 817
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GenotypeQuality
all individuals: 40447
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GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 306
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GenotypeQuality
all individuals: 1029
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variant carriers: 0

GenotypeQuality
all individuals: 5535
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variant carriers: 0

GenotypeQuality
all individuals: 506
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variant carriers: 0

GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 1249
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variant carriers: 0

GenotypeQuality
all individuals: 592
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variant carriers: 0

GenotypeQuality
all individuals: 128
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variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 5.25e1
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GenotypeQuality
all individuals: 1489
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variant carriers: 8

GenotypeQuality
all individuals: 122
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variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

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

African
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allele frequency: 2.174858634188778e-4
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num of homozygotes: 0

Latino
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allele frequency: 6.402048655569782e-4
allele num: 10934
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62292
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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QD
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FS
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BaseQRankSum
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SIO_000300: 4.67e-1

ReadPosRankSum
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SIO_000300: -1.1e-2

VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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SIO_000300: -2.9e-2

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.087429317094389e-4
allele num: 9196
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 62340
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Other
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allele count: 0
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Latino
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ClippingRankSum
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SIO_000300: 6.72e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.203079884504331e-4
allele num: 8312
num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 15344
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 1.95e0

BaseQRankSum
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QD
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MQRankSum
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DP
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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SIO_000300: 3.1e-3

ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele num: 62132
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East Asian
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Latino
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allele num: 10912
num of homozygotes: 0

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

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

South Asian
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allele frequency: 1.309071868045556e-4
allele num: 15278
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.20598166907863e-4
allele num: 8292
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62038
num of homozygotes: 0

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

QD
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SIO_000300: 1.108e1

ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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BaseQRankSum
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SIO_000300: 1.42e0

FS
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SIO_000300: 3.634e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.19e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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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South Asian
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allele frequency: 2.295684113865932e-3
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East Asian
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allele num: 8268
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.183882943874208e-4
allele num: 9158
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 19
allele frequency: 3.064812723811982e-4
allele num: 61994
num of homozygotes: 0

BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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SIO_000300: 1.1e-2

MQ
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SIO_000300: 5.863e1

FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: 6.5e-2

VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9158
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10888
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.613059328322096e-5
allele num: 61994
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -1.98e-1

QD
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SIO_000300: 1.219e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

ClippingRankSum
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SIO_000300: 6.5e-2

ReadPosRankSum
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SIO_000300: 2.37e-1

FS
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

VQSLOD
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
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SIO_000300: -1.106e0

DP
type: SiteQuality
SIO_000300: 1.409539e6

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62036
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 1
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allele num: 15248
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

ReadPosRankSum
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VQSLOD
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FS
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SIO_000300: 1.451e0

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.9e-3

QD
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DP
type: SiteQuality
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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allele num: 10900
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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FS
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 1
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allele num: 6086
num of homozygotes: 0

Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 4.517003290959541e-4
allele num: 61988
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Other
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East Asian
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African
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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DP
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BaseQRankSum
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MQ
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VQSLOD
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 1.214181641573579e-4
allele num: 8236
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 1.005e0

DP
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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SIO_000300: 1.487e1

ReadPosRankSum
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SIO_000300: 9.22e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

South Asian
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allele frequency: 6.614631565021828e-5
allele num: 15118
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61540
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Other
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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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BaseQRankSum
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SIO_000300: -3.421e0

QD
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.798e1

FS
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SIO_000300: 1.56e0

ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.267119707266074e-5
allele num: 61216
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10778
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 1.778e0

VQSLOD
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SIO_000300: -1.805e-1

BaseQRankSum
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SIO_000300: -2.492e0

ReadPosRankSum
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SIO_000300: 1.16e0

ClippingRankSum
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SIO_000300: -9.350000000000001e-1

MQRankSum
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SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

DP
type: SiteQuality
SIO_000300: 1.390224e6

MQ
type: SiteQuality
SIO_000300: 5.606e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 822
num of homozygotes: 0

European (Finnish)
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East Asian
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allele count: 0
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Latino
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allele num: 10780
num of homozygotes: 0

South Asian
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allele count: 59
allele frequency: 3.935432230522945e-3
allele num: 14992
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.897479430586392e-5
allele num: 61256
num of homozygotes: 0

InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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DP
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 8990
num of homozygotes: 0

South Asian
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num of homozygotes: 0

European (Finnish)
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allele count: 0
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Latino
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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DP
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FS
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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SIO_000300: 1.7e0

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

African
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allele frequency: 0.0e0
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European (Finnish)
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Other
type: Population
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South Asian
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East Asian
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Latino
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MQRankSum
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SIO_000300: 1.98e-1

InbreedingCoeff
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DP
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VQSLOD
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QD
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.691932864103952e-5
allele num: 59104
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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InbreedingCoeff
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SIO_000300: 4.0e-3

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 10298
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South Asian
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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