2-131796567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796567
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796567
    reference: chr 2
allele count: 5
allele frequency: 4.220406509555e-5
allele num: 118472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-7044G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.503G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.299G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.496G>A
  hgvsp: ENSP00000348017.3:p.Ala166Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-7044G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.709G>A
  hgvsp: ENSP00000387285.1:p.Ala237Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.709G>A
  hgvsp: ENSP00000316845.5:p.Ala237Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.709G>A
  hgvsp: ENSP00000432267.1:p.Ala237Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.709G>A
  hgvsp: ENSP00000376680.3:p.Ala237Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.459G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28756
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20989
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala237Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-131796569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796569
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796569
    reference: chr 2
allele count: 1
allele frequency: 8.460380040271409e-6
allele num: 118198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.711C>T
  hgvsp: ENST00000525839.1:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.505C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.461C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.711C>T
  hgvsp: ENST00000409303.1:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.498C>T
  hgvsp: ENST00000355771.3:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.711C>T
  hgvsp: ENST00000392953.3:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.711C>T
  hgvsp: ENST00000326016.5:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.301C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-7042C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-7042C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala237Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-131796570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796570
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796570
    reference: chr 2
allele count: 4
allele frequency: 3.393684353418289e-5
allele num: 117866
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.712G>A
  hgvsp: ENSP00000316845.5:p.Asp238Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.499G>A
  hgvsp: ENSP00000348017.3:p.Asp167Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.506G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-7041G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.712G>A
  hgvsp: ENSP00000432267.1:p.Asp238Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.712G>A
  hgvsp: ENSP00000376680.3:p.Asp238Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.462G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.712G>A
  hgvsp: ENSP00000387285.1:p.Asp238Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.302G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-7041G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20550
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp238Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-131796575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796575
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796575
    reference: chr 2
allele count: 2
allele frequency: 1.705960626428742e-5
allele num: 117236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.307C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-7036C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.717C>T
  hgvsp: ENST00000525839.1:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.717C>T
  hgvsp: ENST00000409303.1:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.467C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.504C>T
  hgvsp: ENST00000355771.3:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.717C>T
  hgvsp: ENST00000392953.3:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.717C>T
  hgvsp: ENST00000326016.5:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-7036C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.511C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly239Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-131796591-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796591
    reference: chr 2
allele count: 1
allele frequency: 8.872799545712663e-6
allele num: 112704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.733G>A
  hgvsp: ENSP00000376680.3:p.Ala245Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-7020G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.483G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.733G>A
  hgvsp: ENSP00000432267.1:p.Ala245Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.733G>A
  hgvsp: ENSP00000316845.5:p.Ala245Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.733G>A
  hgvsp: ENSP00000387285.1:p.Ala245Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.527G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.520G>A
  hgvsp: ENSP00000348017.3:p.Ala174Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-7020G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.323G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala245Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

2-131796595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796595
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796595
    reference: chr 2
allele count: 1
allele frequency: 9.046990066404907e-6
allele num: 110534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.737G>A
  hgvsp: ENSP00000387285.1:p.Ser246Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.487G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-7016G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.737G>A
  hgvsp: ENSP00000432267.1:p.Ser246Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-7016G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.327G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.737G>A
  hgvsp: ENSP00000376680.3:p.Ser246Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.737G>A
  hgvsp: ENSP00000316845.5:p.Ser246Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.524G>A
  hgvsp: ENSP00000348017.3:p.Ser175Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.531G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser246Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

2-131796599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796599
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796599
    reference: chr 2
allele count: 2
allele frequency: 1.829658768639649e-5
allele num: 109310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.741C>T
  hgvsp: ENST00000525839.1:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.528C>T
  hgvsp: ENST00000355771.3:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.331C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-7012C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.741C>T
  hgvsp: ENST00000326016.5:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.741C>T
  hgvsp: ENST00000392953.3:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.535C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.741C>T
  hgvsp: ENST00000409303.1:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.491C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-7012C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16230
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe247Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-131796600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796600
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796600
    reference: chr 2
allele count: 1
allele frequency: 9.216250092162501e-6
allele num: 108504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.529G>A
  hgvsp: ENSP00000348017.3:p.Val177Ile
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-7011G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.742G>A
  hgvsp: ENSP00000387285.1:p.Val248Ile
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.742G>A
  hgvsp: ENSP00000432267.1:p.Val248Ile
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.742G>A
  hgvsp: ENSP00000376680.3:p.Val248Ile
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.742G>A
  hgvsp: ENSP00000316845.5:p.Val248Ile
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.332G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.492G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.536G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-7011G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val248Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

2-131796609-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796609
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796609
    reference: chr 2
allele count: 2
allele frequency: 1.917582312220752e-5
allele num: 104298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-7002T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.747+4T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.534+4T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.337+4T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-7002T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.541+4T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.747+4T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.747+4T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.497+4T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.747+4T>C
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18776
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.75e1
  variant carriers: 2
hgvs: c.747+4T>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-131796610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796610
    reference: chr 2
allele count: 9
allele frequency: 8.682900474665225e-5
allele num: 103652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.747+5G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.747+5G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.541+5G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.747+5G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.747+5G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-7001G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.337+5G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.497+5G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-7001G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.534+5G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13437
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13019
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
hgvs: c.747+5G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

2-131796626-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796626
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796626
    reference: chr 2
allele count: 9
allele frequency: 9.549476900876429e-5
allele num: 94246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6985T>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.337+21T>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.534+21T>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.747+21T>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.747+21T>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.497+21T>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.747+21T>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.541+21T>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.747+21T>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6985T>G
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24711
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6750
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-131796630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796630
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796630
    reference: chr 2
allele count: 1
allele frequency: 1.074875851839113e-5
allele num: 93034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6981C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.747+25C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.747+25C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.541+25C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.534+25C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.747+25C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.337+25C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.497+25C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.747+25C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6981C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5634
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

2-131796632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796632
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796632
    reference: chr 2
allele count: 1
allele frequency: 1.097815347458557e-5
allele num: 91090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.541+27C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.337+27C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.747+27C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.534+27C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6979C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6979C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.497+27C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.747+27C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.747+27C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.747+27C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26313
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

2-131796638-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796638
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796638
    reference: chr 2
allele count: 1
allele frequency: 1.141317994019494e-5
allele num: 87618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.747+33G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.534+33G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.337+33G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.497+33G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.747+33G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6973G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.747+33G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.541+33G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.747+33G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6973G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-131796640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796640
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796640
    reference: chr 2
allele count: 1
allele frequency: 1.163494205798855e-5
allele num: 85948
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.747+35G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.747+35G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.497+35G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.337+35G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6971G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.534+35G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.747+35G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6971G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.541+35G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.747+35G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8798
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4278
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-131796640-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796640
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796640
    reference: chr 2
allele count: 1
allele frequency: 1.163494205798855e-5
allele num: 85948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.534+35G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.541+35G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.747+35G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.497+35G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.747+35G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.337+35G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6971G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6971G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.747+35G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.747+35G>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25905
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6110
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

2-131796641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796641
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796641
    reference: chr 2
allele count: 1
allele frequency: 1.177939548142389e-5
allele num: 84894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.534+36C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.541+36C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.747+36C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.337+36C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.747+36C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.497+36C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6970C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6970C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.747+36C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.747+36C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-131796645-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796645
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796645
    reference: chr 2
allele count: 1
allele frequency: 1.225370061758651e-5
allele num: 81608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.534+40T>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.541+40T>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.747+40T>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.747+40T>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.747+40T>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.747+40T>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.337+40T>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.497+40T>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6966T>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6966T>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24529
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-131796646-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796646
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796646
    reference: chr 2
allele count: 13
allele frequency: 1.601498016606302e-4
allele num: 81174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.534+41A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6965A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.747+41A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.541+41A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.497+41A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.747+41A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6965A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.337+41A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.747+41A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.747+41A>G
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24223
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15717
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-131796652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796652
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796652
    reference: chr 2
allele count: 1
allele frequency: 1.388271879164816e-5
allele num: 72032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.337+47C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6959C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.747+47C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.747+47C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.747+47C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.541+47C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.747+47C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.497+47C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.534+47C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6959C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21299
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-131796656-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131796656
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131796656
    reference: chr 2
allele count: 1
allele frequency: 1.41047702332929e-5
allele num: 70898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.534+51C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6955C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.747+51C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.747+51C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6955C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000496764
  gene symbol: ARHGEF4
  hgvsc: ENST00000496764.2:n.541+51C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.337+51C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.497+51C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.747+51C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.747+51C>G
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21215
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7950
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-131797543-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797543
    reference: chr 2
allele count: 1
allele frequency: 6.67913438418381e-5
allele num: 14972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.748-46T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.442T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.535-46T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.748-46T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.748-46T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.498-46T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.748-46T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6068T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.338-46T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6068T>C
  variant of: http://identifiers.org/hgnc/684
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-131797556-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797556
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797556
    reference: chr 2
allele count: 1
allele frequency: 6.480041472265422e-5
allele num: 15432
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.535-33G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.455G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.748-33G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6055G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.338-33G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.748-33G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.748-33G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.748-33G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.498-33G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6055G>C
  variant of: http://identifiers.org/hgnc/684
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4830
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4132
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

2-131797557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797557
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797557
    reference: chr 2
allele count: 1
allele frequency: 6.482561908466225e-5
allele num: 15426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.498-32C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.748-32C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.748-32C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.748-32C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.535-32C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.748-32C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6054C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.338-32C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.456C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6054C>T
  variant of: http://identifiers.org/hgnc/684
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-131797561-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797561
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797561
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 15810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.498-28G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.460G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.748-28G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.338-28G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.748-28G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.748-28G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6050G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6050G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.535-28G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.748-28G>T
  variant of: http://identifiers.org/hgnc/684
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36161
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30674
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-131797568-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797568
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797568
    reference: chr 2
allele count: 2
allele frequency: 1.226391954868776e-4
allele num: 16308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.535-21C>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.748-21C>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.498-21C>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6043C>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.748-21C>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.338-21C>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.748-21C>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.748-21C>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6043C>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.467C>A
  variant of: http://identifiers.org/hgnc/684
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32013
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-131797572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797572
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797572
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 16714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.748-17C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.535-17C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.471C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.748-17C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.748-17C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6039C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.748-17C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.498-17C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6039C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.338-17C>T
  variant of: http://identifiers.org/hgnc/684
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9668
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35527
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32083
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

2-131797581-GCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797581
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797579
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 17930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6029_968-6028delCC
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.498-7_498-6delCC
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.748-7_748-6delCC
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.748-7_748-6delCC
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.748-7_748-6delCC
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.481_482delCC
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.338-7_338-6delCC
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.748-7_748-6delCC
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6029_428-6028delCC
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.535-7_535-6delCC
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13359
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10926
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
hgvs: c.748-7_748-6delCC
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: GCC
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

2-131797591-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797591
    reference: chr 2
allele count: 1
allele frequency: 5.207790855119258e-5
allele num: 19202
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.750G>C
  hgvsp: ENST00000326016.5:c.750G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.750G>C
  hgvsp: ENST00000392953.3:c.750G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.750G>C
  hgvsp: ENST00000525839.1:c.750G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.537G>C
  hgvsp: ENST00000355771.3:c.537G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.490G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.340G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6020G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.750G>C
  hgvsp: ENST00000409303.1:c.750G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6020G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.500G>C
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
hgvs: c.750G>C
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

2-131797600-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797600
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797600
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 20832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.759T>C
  hgvsp: ENST00000392953.3:c.759T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.509T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6011T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.349T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.759T>C
  hgvsp: ENST00000326016.5:c.759T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.546T>C
  hgvsp: ENST00000355771.3:c.546T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6011T>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.759T>C
  hgvsp: ENST00000409303.1:c.759T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.759T>C
  hgvsp: ENST00000525839.1:c.759T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.499T>C
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21914
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Asn253Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

2-131797606-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797606
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797606
    reference: chr 2
allele count: 1
allele frequency: 4.551661356395084e-5
allele num: 21970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.552C>G
  hgvsp: ENSP00000348017.3:p.Asp184Glu
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.765C>G
  hgvsp: ENSP00000432267.1:p.Asp255Glu
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.765C>G
  hgvsp: ENSP00000387285.1:p.Asp255Glu
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6005C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.515C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.765C>G
  hgvsp: ENSP00000316845.5:p.Asp255Glu
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.355C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.505C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.765C>G
  hgvsp: ENSP00000376680.3:p.Asp255Glu
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6005C>G
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp255Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-131797610-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797610
    reference: chr 2
allele count: 1
allele frequency: 4.326007959854646e-5
allele num: 23116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.509C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.519C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.769C>G
  hgvsp: ENSP00000376680.3:p.Pro257Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.769C>G
  hgvsp: ENSP00000316845.5:p.Pro257Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.769C>G
  hgvsp: ENSP00000432267.1:p.Pro257Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.769C>G
  hgvsp: ENSP00000387285.1:p.Pro257Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.556C>G
  hgvsp: ENSP00000348017.3:p.Pro186Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.359C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6001C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6001C>G
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27278
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro257Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

2-131797610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797610
    reference: chr 2
allele count: 1
allele frequency: 4.326007959854646e-5
allele num: 23116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.556C>T
  hgvsp: ENSP00000348017.3:p.Pro186Ser
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-6001C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.509C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.519C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.769C>T
  hgvsp: ENSP00000387285.1:p.Pro257Ser
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.769C>T
  hgvsp: ENSP00000376680.3:p.Pro257Ser
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.769C>T
  hgvsp: ENSP00000316845.5:p.Pro257Ser
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.769C>T
  hgvsp: ENSP00000432267.1:p.Pro257Ser
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-6001C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.359C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro257Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-131797616-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797616
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797616
    reference: chr 2
allele count: 1
allele frequency: 3.879577901924271e-5
allele num: 25776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.562G>A
  hgvsp: ENSP00000348017.3:p.Asp188Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.515G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5995G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.775G>A
  hgvsp: ENSP00000432267.1:p.Asp259Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.775G>A
  hgvsp: ENSP00000376680.3:p.Asp259Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.775G>A
  hgvsp: ENSP00000387285.1:p.Asp259Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.775G>A
  hgvsp: ENSP00000316845.5:p.Asp259Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.365G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.525G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5995G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16069
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp259Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-131797626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797626
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797626
    reference: chr 2
allele count: 2
allele frequency: 6.578514571409775e-5
allele num: 30402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.572C>T
  hgvsp: ENSP00000348017.3:p.Ala191Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.785C>T
  hgvsp: ENSP00000432267.1:p.Ala262Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.785C>T
  hgvsp: ENSP00000316845.5:p.Ala262Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.785C>T
  hgvsp: ENSP00000376680.3:p.Ala262Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.535C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5985C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.375C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.785C>T
  hgvsp: ENSP00000387285.1:p.Ala262Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.525C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5985C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala262Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-131797627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797627
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797627
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 31216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.376C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.536C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.786C>T
  hgvsp: ENST00000392953.3:c.786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.573C>T
  hgvsp: ENST00000355771.3:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5984C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.786C>T
  hgvsp: ENST00000326016.5:c.786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.786C>T
  hgvsp: ENST00000409303.1:c.786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.786C>T
  hgvsp: ENST00000525839.1:c.786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.526C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5984C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34401
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Ala262Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-131797636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797636
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797636
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 37660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.795C>T
  hgvsp: ENST00000409303.1:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.795C>T
  hgvsp: ENST00000525839.1:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.795C>T
  hgvsp: ENST00000392953.3:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.795C>T
  hgvsp: ENST00000326016.5:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5975C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.535C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.545C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.582C>T
  hgvsp: ENST00000355771.3:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.385C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5975C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34673
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala265Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

2-131797638-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797638
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797638
    reference: chr 2
allele count: 1
allele frequency: 2.476964232636481e-5
allele num: 40372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.387G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.797G>C
  hgvsp: ENSP00000432267.1:p.Gly266Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.537G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.797G>C
  hgvsp: ENSP00000316845.5:p.Gly266Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.797G>C
  hgvsp: ENSP00000376680.3:p.Gly266Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5973G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.547G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.584G>C
  hgvsp: ENSP00000348017.3:p.Gly195Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.797G>C
  hgvsp: ENSP00000387285.1:p.Gly266Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5973G>C
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly266Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

2-131797640-A-AACAGCGGAGCGGAGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797640
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797655
    reference: chr 2
allele count: 1
allele frequency: 2.3697805583203e-5
allele num: 42198
alternate allele: AACAGCGGAGCGGAGG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsp: ENSP00000376680.3:p.Ser268_Asp272dup
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsp: ENSP00000316845.5:p.Ser268_Asp272dup
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsp: ENSP00000348017.3:p.Ser197_Asp201dup
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsp: ENSP00000387285.1:p.Ser268_Asp272dup
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsp: ENSP00000432267.1:p.Ser268_Asp272dup
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser268_Asp272dup
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-131797642-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797642
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797642
    reference: chr 2
allele count: 1
allele frequency: 2.30467849734962e-5
allele num: 43390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.801C>G
  hgvsp: ENSP00000376680.3:p.Asn267Lys
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.801C>G
  hgvsp: ENSP00000432267.1:p.Asn267Lys
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.551C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.391C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.801C>G
  hgvsp: ENSP00000316845.5:p.Asn267Lys
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5969C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.801C>G
  hgvsp: ENSP00000387285.1:p.Asn267Lys
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.588C>G
  hgvsp: ENSP00000348017.3:p.Asn196Lys
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.541C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5969C>G
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32667
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn267Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-131797642-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797642
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797642
    reference: chr 2
allele count: 4
allele frequency: 9.218713989398479e-5
allele num: 43390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5969C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.588C>T
  hgvsp: ENST00000355771.3:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.801C>T
  hgvsp: ENST00000392953.3:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.801C>T
  hgvsp: ENST00000326016.5:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.801C>T
  hgvsp: ENST00000409303.1:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.551C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.391C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5969C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.801C>T
  hgvsp: ENST00000525839.1:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.541C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn267Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-131797644-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797644
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797644
    reference: chr 2
allele count: 1
allele frequency: 2.221333688746724e-5
allele num: 45018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.393G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.543G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5967G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.803G>C
  hgvsp: ENSP00000316845.5:p.Ser268Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.803G>C
  hgvsp: ENSP00000376680.3:p.Ser268Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.553G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.803G>C
  hgvsp: ENSP00000387285.1:p.Ser268Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.803G>C
  hgvsp: ENSP00000432267.1:p.Ser268Thr
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5967G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.590G>C
  hgvsp: ENSP00000348017.3:p.Ser197Thr
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser268Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-131797646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797646
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797646
    reference: chr 2
allele count: 6
allele frequency: 1.251355635271544e-4
allele num: 47948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.395G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5965G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.805G>A
  hgvsp: ENSP00000387285.1:p.Gly269Arg
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.805G>A
  hgvsp: ENSP00000432267.1:p.Gly269Arg
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.555G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.805G>A
  hgvsp: ENSP00000316845.5:p.Gly269Arg
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.805G>A
  hgvsp: ENSP00000376680.3:p.Gly269Arg
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.545G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5965G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.592G>A
  hgvsp: ENSP00000348017.3:p.Gly198Arg
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12290
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32386
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly269Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-131797647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797647
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797647
    reference: chr 2
allele count: 27
allele frequency: 5.495176456221761e-4
allele num: 49134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.806G>A
  hgvsp: ENSP00000387285.1:p.Gly269Glu
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5964G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.806G>A
  hgvsp: ENSP00000376680.3:p.Gly269Glu
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.396G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.546G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.806G>A
  hgvsp: ENSP00000432267.1:p.Gly269Glu
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.593G>A
  hgvsp: ENSP00000348017.3:p.Gly198Glu
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.806G>A
  hgvsp: ENSP00000316845.5:p.Gly269Glu
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.556G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5964G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12651
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 32100
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly269Glu
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

2-131797647-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797647
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797647
    reference: chr 2
allele count: 1
allele frequency: 2.035250539341393e-5
allele num: 49134
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.806G>C
  hgvsp: ENSP00000316845.5:p.Gly269Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.806G>C
  hgvsp: ENSP00000387285.1:p.Gly269Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5964G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.593G>C
  hgvsp: ENSP00000348017.3:p.Gly198Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.546G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.806G>C
  hgvsp: ENSP00000432267.1:p.Gly269Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.556G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5964G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.806G>C
  hgvsp: ENSP00000376680.3:p.Gly269Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.396G>C
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly269Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

2-131797648-A-AGCGGAGGACGGCGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797648
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797663
    reference: chr 2
allele count: 28
allele frequency: 5.611447352599303e-4
allele num: 49898
alternate allele: AGCGGAGGACGGCGGG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsp: ENSP00000387285.1:p.Asp272_Glu276dup
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsp: ENSP00000376680.3:p.Asp272_Glu276dup
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsp: ENSP00000432267.1:p.Asp272_Glu276dup
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsp: ENSP00000348017.3:p.Asp201_Glu205dup
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsp: ENSP00000316845.5:p.Asp272_Glu276dup
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31811
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp272_Glu276dup
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-131797648-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797648
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797648
    reference: chr 2
allele count: 1
allele frequency: 2.004088340214037e-5
allele num: 49898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5963A>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.807A>C
  hgvsp: ENST00000392953.3:c.807A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5963A>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.807A>C
  hgvsp: ENST00000326016.5:c.807A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.594A>C
  hgvsp: ENST00000355771.3:c.594A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.557A>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.807A>C
  hgvsp: ENST00000409303.1:c.807A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.547A>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.397A>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.807A>C
  hgvsp: ENST00000525839.1:c.807A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly269Gly
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-131797648-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797648
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797648
    reference: chr 2
allele count: 3
allele frequency: 6.01226502064211e-5
allele num: 49898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.594A>G
  hgvsp: ENST00000355771.3:c.594A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5963A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.807A>G
  hgvsp: ENST00000326016.5:c.807A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.547A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5963A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.557A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.807A>G
  hgvsp: ENST00000409303.1:c.807A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.807A>G
  hgvsp: ENST00000525839.1:c.807A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.807A>G
  hgvsp: ENST00000392953.3:c.807A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.397A>G
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31811
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly269Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-131797648-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797648
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797648
    reference: chr 2
allele count: 3
allele frequency: 6.01226502064211e-5
allele num: 49898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.807A>T
  hgvsp: ENST00000392953.3:c.807A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.807A>T
  hgvsp: ENST00000326016.5:c.807A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5963A>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.547A>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.557A>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.807A>T
  hgvsp: ENST00000409303.1:c.807A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.397A>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.807A>T
  hgvsp: ENST00000525839.1:c.807A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.594A>T
  hgvsp: ENST00000355771.3:c.594A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5963A>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly269Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-131797650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797650
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797650
    reference: chr 2
allele count: 1
allele frequency: 1.959401206991143e-5
allele num: 51036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.809C>T
  hgvsp: ENSP00000376680.3:p.Ala270Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.399C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.809C>T
  hgvsp: ENSP00000387285.1:p.Ala270Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5961C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5961C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.809C>T
  hgvsp: ENSP00000316845.5:p.Ala270Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.549C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.559C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.596C>T
  hgvsp: ENSP00000348017.3:p.Ala199Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.809C>T
  hgvsp: ENSP00000432267.1:p.Ala270Val
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30389
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala270Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-131797651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797651
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797651
    reference: chr 2
allele count: 1
allele frequency: 1.865950141812211e-5
allele num: 53592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.597G>A
  hgvsp: ENST00000355771.3:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5960G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.550G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.810G>A
  hgvsp: ENST00000525839.1:c.810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.810G>A
  hgvsp: ENST00000326016.5:c.810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.560G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.810G>A
  hgvsp: ENST00000392953.3:c.810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.810G>A
  hgvsp: ENST00000409303.1:c.810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5960G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.400G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6586
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala270Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

2-131797652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797652
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797652
    reference: chr 2
allele count: 2
allele frequency: 3.645643456069996e-5
allele num: 54860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.598G>A
  hgvsp: ENSP00000348017.3:p.Glu200Lys
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5959G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.401G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.811G>A
  hgvsp: ENSP00000316845.5:p.Glu271Lys
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5959G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.551G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.811G>A
  hgvsp: ENSP00000387285.1:p.Glu271Lys
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.811G>A
  hgvsp: ENSP00000432267.1:p.Glu271Lys
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.561G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.811G>A
  hgvsp: ENSP00000376680.3:p.Glu271Lys
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu271Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-131797653-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797653
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797653
    reference: chr 2
allele count: 1
allele frequency: 1.78711845021088e-5
allele num: 55956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.812A>G
  hgvsp: ENSP00000376680.3:p.Glu271Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.812A>G
  hgvsp: ENSP00000316845.5:p.Glu271Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.812A>G
  hgvsp: ENSP00000387285.1:p.Glu271Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.552A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5958A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5958A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.562A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.599A>G
  hgvsp: ENSP00000348017.3:p.Glu200Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.812A>G
  hgvsp: ENSP00000432267.1:p.Glu271Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.402A>G
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15120
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu271Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

2-131797654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797654
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797654
    reference: chr 2
allele count: 1
allele frequency: 1.757716374885749e-5
allele num: 56892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.813G>A
  hgvsp: ENST00000525839.1:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.813G>A
  hgvsp: ENST00000392953.3:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.813G>A
  hgvsp: ENST00000326016.5:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.403G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.563G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.813G>A
  hgvsp: ENST00000409303.1:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5957G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.600G>A
  hgvsp: ENST00000355771.3:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5957G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.553G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu271Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-131797656-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797656
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797656
    reference: chr 2
allele count: 1
allele frequency: 1.716620317918083e-5
allele num: 58254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.602A>C
  hgvsp: ENSP00000348017.3:p.Asp201Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.815A>C
  hgvsp: ENSP00000316845.5:p.Asp272Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.555A>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.815A>C
  hgvsp: ENSP00000376680.3:p.Asp272Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.815A>C
  hgvsp: ENSP00000432267.1:p.Asp272Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5955A>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.815A>C
  hgvsp: ENSP00000387285.1:p.Asp272Ala
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.565A>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.405A>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5955A>C
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28687
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp272Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-131797657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797657
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797657
    reference: chr 2
allele count: 1
allele frequency: 1.700738120344229e-5
allele num: 58798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.816C>T
  hgvsp: ENST00000525839.1:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.603C>T
  hgvsp: ENST00000355771.3:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.556C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.406C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.816C>T
  hgvsp: ENST00000326016.5:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.816C>T
  hgvsp: ENST00000392953.3:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.816C>T
  hgvsp: ENST00000409303.1:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5954C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5954C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.566C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28071
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp272Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

2-131797659-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797659
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797659
    reference: chr 2
allele count: 24
allele frequency: 3.862495171881035e-4
allele num: 62136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.818G>T
  hgvsp: ENSP00000432267.1:p.Gly273Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.818G>T
  hgvsp: ENSP00000376680.3:p.Gly273Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.558G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.408G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5952G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.605G>T
  hgvsp: ENSP00000348017.3:p.Gly202Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.818G>T
  hgvsp: ENSP00000316845.5:p.Gly273Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.568G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.818G>T
  hgvsp: ENSP00000387285.1:p.Gly273Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5952G>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 27199
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17375
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly273Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-131797661-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797661
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797661
    reference: chr 2
allele count: 1
allele frequency: 1.525134211810639e-5
allele num: 65568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.607G>C
  hgvsp: ENSP00000348017.3:p.Gly203Arg
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.570G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.820G>C
  hgvsp: ENSP00000432267.1:p.Gly274Arg
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5950G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.410G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.820G>C
  hgvsp: ENSP00000376680.3:p.Gly274Arg
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.820G>C
  hgvsp: ENSP00000387285.1:p.Gly274Arg
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.560G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5950G>C
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.820G>C
  hgvsp: ENSP00000316845.5:p.Gly274Arg
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly274Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

2-131797661-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797661
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797661
    reference: chr 2
allele count: 2
allele frequency: 3.050268423621279e-5
allele num: 65568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5950G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.410G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.820G>T
  hgvsp: ENSP00000387285.1:p.Gly274Trp
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.820G>T
  hgvsp: ENSP00000316845.5:p.Gly274Trp
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.570G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.560G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5950G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.820G>T
  hgvsp: ENSP00000432267.1:p.Gly274Trp
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.607G>T
  hgvsp: ENSP00000348017.3:p.Gly203Trp
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.820G>T
  hgvsp: ENSP00000376680.3:p.Gly274Trp
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly274Trp
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-131797663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797663
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797663
    reference: chr 2
allele count: 1
allele frequency: 1.458236117592161e-5
allele num: 68576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.822G>A
  hgvsp: ENST00000409303.1:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.822G>A
  hgvsp: ENST00000525839.1:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.572G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.822G>A
  hgvsp: ENST00000326016.5:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5948G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.609G>A
  hgvsp: ENST00000355771.3:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.822G>A
  hgvsp: ENST00000392953.3:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5948G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.412G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.562G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly274Gly
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

2-131797665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797665
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797665
    reference: chr 2
allele count: 5
allele frequency: 7.079144839303412e-5
allele num: 70630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.824C>T
  hgvsp: ENSP00000376680.3:p.Ala275Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5946C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.824C>T
  hgvsp: ENSP00000316845.5:p.Ala275Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.574C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.564C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.824C>T
  hgvsp: ENSP00000387285.1:p.Ala275Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.414C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.611C>T
  hgvsp: ENSP00000348017.3:p.Ala204Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.824C>T
  hgvsp: ENSP00000432267.1:p.Ala275Val
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5946C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21396
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala275Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-131797666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797666
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797666
    reference: chr 2
allele count: 1
allele frequency: 1.360100103367608e-5
allele num: 73524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.415G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.825G>A
  hgvsp: ENST00000392953.3:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.825G>A
  hgvsp: ENST00000409303.1:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.612G>A
  hgvsp: ENST00000355771.3:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.575G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.825G>A
  hgvsp: ENST00000525839.1:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.825G>A
  hgvsp: ENST00000326016.5:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5945G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.565G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5945G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala275Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-131797667-G-GAGGCGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797667
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797673
    reference: chr 2
allele count: 1
allele frequency: 1.323101349563376e-5
allele num: 75580
alternate allele: GAGGCGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.579_584dupGCGCAG
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.829_834dupGCGCAG
  hgvsp: ENSP00000316845.5:p.Ala277_Gln278dup
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.829_834dupGCGCAG
  hgvsp: ENSP00000376680.3:p.Ala277_Gln278dup
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.829_834dupGCGCAG
  hgvsp: ENSP00000387285.1:p.Ala277_Gln278dup
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.569_574dupGCGCAG
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.616_621dupGCGCAG
  hgvsp: ENSP00000348017.3:p.Ala206_Gln207dup
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.419_424dupGCGCAG
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.829_834dupGCGCAG
  hgvsp: ENSP00000432267.1:p.Ala277_Gln278dup
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22342
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala277_Gln278dup
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-131797668-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797668
    reference: chr 2
allele count: 3
allele frequency: 3.89418209195462e-5
allele num: 77038
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.827A>G
  hgvsp: ENSP00000387285.1:p.Glu276Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.827A>G
  hgvsp: ENSP00000432267.1:p.Glu276Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.417A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.827A>G
  hgvsp: ENSP00000376680.3:p.Glu276Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.614A>G
  hgvsp: ENSP00000348017.3:p.Glu205Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.567A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.827A>G
  hgvsp: ENSP00000316845.5:p.Glu276Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.577A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5943A>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5943A>G
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24717
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu276Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-131797669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797669
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797669
    reference: chr 2
allele count: 2
allele frequency: 2.539618041446566e-5
allele num: 78752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.828G>A
  hgvsp: ENST00000525839.1:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.828G>A
  hgvsp: ENST00000326016.5:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.615G>A
  hgvsp: ENST00000355771.3:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.578G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.418G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.828G>A
  hgvsp: ENST00000409303.1:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5942G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.828G>A
  hgvsp: ENST00000392953.3:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5942G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.568G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu276Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

2-131797671-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797671
    reference: chr 2
allele count: 1
allele frequency: 1.233988992818184e-5
allele num: 81038
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5940C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.570C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.830C>G
  hgvsp: ENSP00000387285.1:p.Ala277Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.830C>G
  hgvsp: ENSP00000376680.3:p.Ala277Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.580C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.830C>G
  hgvsp: ENSP00000316845.5:p.Ala277Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.617C>G
  hgvsp: ENSP00000348017.3:p.Ala206Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.830C>G
  hgvsp: ENSP00000432267.1:p.Ala277Gly
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.420C>G
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5940C>G
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala277Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-131797675-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797675
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797675
    reference: chr 2
allele count: 1
allele frequency: 1.130045653844415e-5
allele num: 88492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5936G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.834G>T
  hgvsp: ENSP00000432267.1:p.Gln278His
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.834G>T
  hgvsp: ENSP00000316845.5:p.Gln278His
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.834G>T
  hgvsp: ENSP00000387285.1:p.Gln278His
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.584G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.574G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.834G>T
  hgvsp: ENSP00000376680.3:p.Gln278His
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.621G>T
  hgvsp: ENSP00000348017.3:p.Gln207His
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5936G>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.424G>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16400
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln278His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

2-131797677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797677
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797677
    reference: chr 2
allele count: 1
allele frequency: 1.099432692730551e-5
allele num: 90956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5934G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.836G>A
  hgvsp: ENSP00000387285.1:p.Ser279Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.836G>A
  hgvsp: ENSP00000376680.3:p.Ser279Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.836G>A
  hgvsp: ENSP00000316845.5:p.Ser279Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.576G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.426G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.623G>A
  hgvsp: ENSP00000348017.3:p.Ser208Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.586G>A
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.836G>A
  hgvsp: ENSP00000432267.1:p.Ser279Asn
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5934G>A
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser279Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-131797687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131797687
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131797687
    reference: chr 2
allele count: 1
allele frequency: 9.97884484892029e-6
allele num: 100212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000432267
  ensembl transcript: ENST00000525839
  gene symbol: ARHGEF4
  hgvsc: ENST00000525839.1:c.846C>T
  hgvsp: ENST00000525839.1:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000389661
  ensembl transcript: ENST00000438985
  gene symbol: ARHGEF4
  hgvsc: ENST00000438985.1:c.968-5924C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000528247
  gene symbol: ARHGEF4
  hgvsc: ENST00000528247.1:n.436C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000348017
  ensembl transcript: ENST00000355771
  gene symbol: ARHGEF4
  hgvsc: ENST00000355771.3:c.633C>T
  hgvsp: ENST00000355771.3:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000376680
  ensembl transcript: ENST00000392953
  gene symbol: ARHGEF4
  hgvsc: ENST00000392953.3:c.846C>T
  hgvsp: ENST00000392953.3:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000490728
  gene symbol: ARHGEF4
  hgvsc: ENST00000490728.1:n.586C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136002
  ensembl transcript: ENST00000439368
  gene symbol: ARHGEF4
  hgvsc: ENST00000439368.2:n.596C>T
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000387285
  ensembl transcript: ENST00000409303
  gene symbol: ARHGEF4
  hgvsc: ENST00000409303.1:c.846C>T
  hgvsp: ENST00000409303.1:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000316845
  ensembl transcript: ENST00000326016
  gene symbol: ARHGEF4
  hgvsc: ENST00000326016.5:c.846C>T
  hgvsp: ENST00000326016.5:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136002
  ensembl protein: ENSP00000398455
  ensembl transcript: ENST00000428230
  gene symbol: ARHGEF4
  hgvsc: ENST00000428230.2:c.428-5924C>T
  variant of: http://identifiers.org/hgnc/684
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp282Asp
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 46141
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6655
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 311
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 223
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.676010930639566e-5
allele num: 65138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

DP
type: SiteQuality
SIO_000300: 1.521664e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.162e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 1.403e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.62e-1

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45931
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1213
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537799101925324e-5
allele num: 65028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

FS
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 1.282e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

DP
type: SiteQuality
SIO_000300: 1.517105e6

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

GenotypeQuality
all individuals: 265
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45348
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 347
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6563
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.163518136152115e-5
allele num: 64898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15874
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.001e1

FS
type: SiteQuality
SIO_000300: 4.972e0

DP
type: SiteQuality
SIO_000300: 1.511353e6

VQSLOD
type: SiteQuality
SIO_000300: 2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.671e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3309
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6312
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44793
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547364837681428e-5
allele num: 64626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.371861858034918e-5
allele num: 15694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

DP
type: SiteQuality
SIO_000300: 1.500628e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

GenotypeQuality
all individuals: 349
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1029
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7721
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.598107840317065e-5
allele num: 62574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.034e0

DP
type: SiteQuality
SIO_000300: 1.412999e6

QD
type: SiteQuality
SIO_000300: 1.021e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.505e0

GenotypeQuality
all individuals: 382
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5169
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9971
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 756
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.626439398867998e-5
allele num: 61484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14266
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 1.364088e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

QD
type: SiteQuality
SIO_000300: 7.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

FS
type: SiteQuality
SIO_000300: 3.806e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10550
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.427959445951735e-4
allele num: 14006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.648e-1

MQRankSum
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SIO_000300: -1.57e-1

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

QD
type: SiteQuality
SIO_000300: 7.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.337044e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.653275138048474e-5
allele num: 60486
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: 0.0e0
allele num: 13846
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

DP
type: SiteQuality
SIO_000300: 1.31701e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

FS
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.43147347471004e-5
allele num: 58284
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.341e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

FS
type: SiteQuality
SIO_000300: 5.681e0

VQSLOD
type: SiteQuality
SIO_000300: -1.995e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 1.212493e6

MQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

MQ
type: SiteQuality
SIO_000300: 5.844e1

QD
type: SiteQuality
SIO_000300: 7.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.125e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.867762420620097e-4
allele num: 5354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.380548077586802e-4
allele num: 57948
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

DP
type: SiteQuality
SIO_000300: 1.199864e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

FS
type: SiteQuality
SIO_000300: 1.372e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

South Asian
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allele count: 9
allele frequency: 7.928118393234672e-4
allele num: 11352
num of homozygotes: 0

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

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

ClippingRankSum
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SIO_000300: -5.32e-1

MQ
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QD
type: SiteQuality
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BaseQRankSum
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DP
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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SIO_000300: 2.28e-1

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

European (Non-Finnish)
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allele frequency: 1.90461679110163e-5
allele num: 52504
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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MQ
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VQSLOD
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 1.165501165501166e-4
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South Asian
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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 frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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BaseQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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QD
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ClippingRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.006903748896203e-5
allele num: 49828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.1368e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

QD
type: SiteQuality
SIO_000300: 1.107e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 107
bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.59846547314578e-4
allele num: 6256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49004
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.447e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.034e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

DP
type: SiteQuality
SIO_000300: 7.98701e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.248127808287569e-4
allele num: 8012
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

DP
type: SiteQuality
SIO_000300: 7.98701e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.034e0

VQSLOD
type: SiteQuality
SIO_000300: -2.447e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6174
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.062621178994266e-5
allele num: 48482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.819e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

DP
type: SiteQuality
SIO_000300: 7.90461e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

MQ
type: SiteQuality
SIO_000300: 5.766e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.451e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.141602775517197e-5
allele num: 46694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

QD
type: SiteQuality
SIO_000300: 4.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.273e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.62685e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9020
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46518
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7370
num of homozygotes: 0

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

East Asian
type: Population
allele count: 13
allele frequency: 2.185608607935441e-3
allele num: 5948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

QD
type: SiteQuality
SIO_000300: 1.314e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

MQRankSum
type: SiteQuality
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FS
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -3.32e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 7010
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.402344688415894e-5
allele num: 41626
num of homozygotes: 0

Other
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allele num: 500
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
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FS
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.766e1

MQRankSum
type: SiteQuality
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DP
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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DP
type: SiteQuality
SIO_000300: 7.34118e5

FS
type: SiteQuality
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MQ
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Other
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African
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South Asian
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European (Non-Finnish)
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Latino
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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ReadPosRankSum
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SIO_000300: -1.214e0

MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.214e0

VQSLOD
type: SiteQuality
SIO_000300: -2.772e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.818e0

DP
type: SiteQuality
SIO_000300: 2.57966e5

QD
type: SiteQuality
SIO_000300: 1.146e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.347708894878706e-4
allele num: 7420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.446e0

FS
type: SiteQuality
SIO_000300: 1.972e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.389999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.363e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 2.89276e5

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.350621285791464e-4
allele num: 7404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.93828e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.41e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 3.04664e5

QD
type: SiteQuality
SIO_000300: 1.069e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 2.626050420168067e-4
allele num: 7616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.25566e5

VQSLOD
type: SiteQuality
SIO_000300: -2.724e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 1.286e0

QD
type: SiteQuality
SIO_000300: 7.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.74e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1846
num of homozygotes: 0

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

Other
type: Population
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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: 7690
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 7.27e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.532e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 7844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
type: Population
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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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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 frequency: 0.0e0
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European (Finnish)
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South Asian
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allele frequency: 1.259445843828715e-4
allele num: 7940
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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VQSLOD
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QD
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MQ
type: SiteQuality
SIO_000300: 5.852e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

East Asian
type: Population
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
allele num: 512
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele 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: 198
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8868
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.725000000000001e-1

DP
type: SiteQuality
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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African
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Latino
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East Asian
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InbreedingCoeff
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FS
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Other
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Latino
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African
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South Asian
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European (Finnish)
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Other
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African
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South Asian
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Latino
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East Asian
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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DP
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MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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Latino
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African
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East Asian
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Other
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Other
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Latino
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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FS
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QD
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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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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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South Asian
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Other
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European (Finnish)
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VQSLOD
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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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BaseQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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African
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Other
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European (Finnish)
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East Asian
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South Asian
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DP
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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Latino
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -2.489e0

MQ
type: SiteQuality
SIO_000300: 5.805e1

QD
type: SiteQuality
SIO_000300: 3.82e0

DP
type: SiteQuality
SIO_000300: 6.76844e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23026
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.060728744939271e-4
allele num: 1976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1176
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.04e0

MQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.139e1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.88201e5

GenotypeQuality
all individuals: 1432
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.200974626113258e-5
allele num: 23804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.152e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 5.914e0

DP
type: SiteQuality
SIO_000300: 6.99691e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

QD
type: SiteQuality
SIO_000300: 8.08e0

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 192
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.680389850445303e-4
allele num: 23804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 6.99691e5

FS
type: SiteQuality
SIO_000300: 5.914e0

VQSLOD
type: SiteQuality
SIO_000300: -4.152e-1

QD
type: SiteQuality
SIO_000300: 8.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 530
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 250
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24852
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.029866117404737e-4
allele num: 9710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.481e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.0e-3

FS
type: SiteQuality
SIO_000300: 4.934e0

MQRankSum
type: SiteQuality
SIO_000300: -4.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.41e-1

DP
type: SiteQuality
SIO_000300: 7.11797e5

QD
type: SiteQuality
SIO_000300: 8.81e0

GenotypeQuality
all individuals: 45
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.870417477180907e-4
allele num: 26732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4254
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.498950314905528e-4
allele num: 2858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.682e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
type: SiteQuality
SIO_000300: 7.3556e5

GenotypeQuality
all individuals: 377
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1083
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 25

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14206
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.997203914519672e-4
allele num: 10014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 3.328894806924101e-3
allele num: 1502
num of homozygotes: 1

Latino
type: Population
allele count: 4
allele frequency: 1.323626737260093e-3
allele num: 3022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4322
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 2.439024390243902e-3
allele num: 2460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 3.648037355902525e-4
allele num: 27412
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.165e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 2.923e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

DP
type: SiteQuality
SIO_000300: 7.42403e5

GenotypeQuality
all individuals: 131
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 168
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GenotypeQuality
all individuals: 83
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3022
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4322
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.986019572598362e-5
allele num: 10014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27412
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.923e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.42403e5

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 30

GenotypeQuality
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GenotypeQuality
all individuals: 260
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GenotypeQuality
all individuals: 14483
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 6.510416666666666e-4
allele num: 3072
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.980891719745223e-4
allele num: 10048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 7.506970758561521e-4
allele num: 27974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.298850574712644e-4
allele num: 4350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.652e0

VQSLOD
type: SiteQuality
SIO_000300: 9.81e-1

QD
type: SiteQuality
SIO_000300: 4.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.336e1

DP
type: SiteQuality
SIO_000300: 7.49071e5

FS
type: SiteQuality
SIO_000300: 1.374e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

GenotypeQuality
all individuals: 166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.298850574712644e-4
allele num: 4350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

DP
type: SiteQuality
SIO_000300: 7.49071e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

QD
type: SiteQuality
SIO_000300: 4.17e0

VQSLOD
type: SiteQuality
SIO_000300: 9.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.652e0

FS
type: SiteQuality
SIO_000300: 1.374e0

MQ
type: SiteQuality
SIO_000300: 5.336e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.63e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

GenotypeQuality
all individuals: 2046
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 1396
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27974
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.597701149425287e-4
allele num: 4350
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.255208333333333e-4
allele num: 3072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.652e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

DP
type: SiteQuality
SIO_000300: 7.49071e5

MQ
type: SiteQuality
SIO_000300: 5.336e1

QD
type: SiteQuality
SIO_000300: 4.17e0

FS
type: SiteQuality
SIO_000300: 1.374e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.63e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.149495960534782e-5
allele num: 27974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.952229299363058e-5
allele num: 10048
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.652e0

VQSLOD
type: SiteQuality
SIO_000300: 9.81e-1

FS
type: SiteQuality
SIO_000300: 1.374e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.63e-2

DP
type: SiteQuality
SIO_000300: 7.49071e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQ
type: SiteQuality
SIO_000300: 5.336e1

QD
type: SiteQuality
SIO_000300: 4.17e0

GenotypeQuality
all individuals: 544
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.49577011815703e-5
allele num: 28606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2646
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.129e0

DP
type: SiteQuality
SIO_000300: 7.60628e5

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.96e0

QD
type: SiteQuality
SIO_000300: 1.342e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

GenotypeQuality
all individuals: 273
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 405
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GenotypeQuality
all individuals: 18
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30401
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.168256721595837e-4
allele num: 4612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

FS
type: SiteQuality
SIO_000300: 3.899e0

DP
type: SiteQuality
SIO_000300: 7.77768e5

QD
type: SiteQuality
SIO_000300: 1.314e1

GenotypeQuality
all individuals: 1475
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 3.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31014
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.262574595055413e-4
allele num: 4692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10414
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

QD
type: SiteQuality
SIO_000300: 7.17e0

FS
type: SiteQuality
SIO_000300: 1.725e0

VQSLOD
type: SiteQuality
SIO_000300: -6.63e-1

DP
type: SiteQuality
SIO_000300: 7.87155e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 192
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GenotypeQuality
all individuals: 29906
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GenotypeQuality
all individuals: 558
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.634351949420442e-4
allele num: 3796
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3004
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.96222e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

QD
type: SiteQuality
SIO_000300: 1.627e1

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 301
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1525
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 283
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29318
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GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32240
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
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allele count: 1
allele frequency: 9.475080538184574e-5
allele num: 10554
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1832
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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SIO_000300: -1.023e0

BaseQRankSum
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SIO_000300: 9.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

DP
type: SiteQuality
SIO_000300: 8.01686e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

FS
type: SiteQuality
SIO_000300: 1.283e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

QD
type: SiteQuality
SIO_000300: 6.55e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 33034
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.021835826930853e-4
allele num: 4946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3216
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 10642
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
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SIO_000300: 9.2e-3

DP
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SIO_000300: 8.13983e5

FS
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -1.001e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

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

South Asian
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allele frequency: 9.335324869305452e-5
allele num: 10712
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4138
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3274
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 33320
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1926
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 4968
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.133e0

QD
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SIO_000300: 1.198e1

ReadPosRankSum
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SIO_000300: 1.22e0

BaseQRankSum
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SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

MQRankSum
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SIO_000300: 1.29e0

VQSLOD
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DP
type: SiteQuality
SIO_000300: 8.21485e5

MQ
type: SiteQuality
SIO_000300: 5.82e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 22

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5190
num of homozygotes: 0

East Asian
type: Population
allele count: 24
allele frequency: 6.73778775968557e-3
allele num: 3562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4568
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

FS
type: SiteQuality
SIO_000300: 7.179e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

DP
type: SiteQuality
SIO_000300: 8.41859e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.035e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3826
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.844861135680169e-5
allele num: 11306
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2234
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.72892e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

BaseQRankSum
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SIO_000300: -3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.894e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.26e-1

FS
type: SiteQuality
SIO_000300: 1.2134e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2234
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

African
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allele count: 1
allele frequency: 1.847063169560399e-4
allele num: 5414
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.684996241005263e-5
allele num: 37244
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 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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Latino
type: Population
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Other
type: Population
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East Asian
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: 2.564102564102564e-5
allele num: 39000
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European (Finnish)
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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QD
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MQ
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 4
allele frequency: 3.43819838404676e-4
allele num: 11634
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.486943546381497e-5
allele num: 40210
num of homozygotes: 0

African
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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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East Asian
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Other
type: Population
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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SIO_000300: 9.12964e5

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 41814
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
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num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.62813415825464e-4
allele num: 6142
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2596
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Other
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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QD
type: SiteQuality
SIO_000300: 1.285e1

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

African
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allele frequency: 1.633453119895459e-4
allele num: 6122
num of homozygotes: 0

Latino
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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

South Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42916
num of homozygotes: 0

FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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SIO_000300: -4.6e-3

BaseQRankSum
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QD
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MQRankSum
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SIO_000300: -1.945e0

ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 4874
num of homozygotes: 0

South Asian
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allele frequency: 1.641766540797899e-4
allele num: 12182
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.287073460799561e-5
allele num: 43724
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2776
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6672
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-2

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

DP
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SIO_000300: 9.64515e5

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

ClippingRankSum
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SIO_000300: -5.43e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2890
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.6220600162206e-4
allele num: 12330
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6936
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5008
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44622
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FS
type: SiteQuality
SIO_000300: 8.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.01e-1

InbreedingCoeff
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SIO_000300: -4.1e-3

BaseQRankSum
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MQRankSum
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SIO_000300: 1.54e0

VQSLOD
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.748e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.180834823570463e-5
allele num: 45854
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele 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: 12544
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3014
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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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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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MQ
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QD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 49692
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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East Asian
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3744
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
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Other
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South Asian
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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