12-57871044-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871044
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871044
    reference: chr 12
allele count: 1
allele frequency: 8.903926631644555e-6
allele num: 112310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.213C>G
  hgvsp: ENST00000430041.2:c.213C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.213C>G
  hgvsp: ENST00000552066.1:c.213C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.1002C>G
  hgvsp: ENST00000550288.1:c.1002C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.324C>G
  hgvsp: ENST00000551452.1:c.324C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.900C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.765C>G
  hgvsp: ENST00000393791.3:c.765C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.298C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.978C>G
  hgvsp: ENST00000393797.2:c.978C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.291C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.213C>G
  hgvsp: ENST00000548139.1:c.213C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.765C>G
  hgvsp: ENST00000356411.2:c.765C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.213C>G
  hgvsp: ENST00000552604.1:c.213C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.452C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.267C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.499C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.303C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.220G>C
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.765C>G
  hgvsp: ENST00000424809.2:c.765C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly255Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

12-57871045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871045
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871045
    reference: chr 12
allele count: 4
allele frequency: 3.564236451446189e-5
allele num: 112226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.212G>A
  hgvsp: ENSP00000448424.1:p.Gly71Asp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.451G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.498G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.323G>A
  hgvsp: ENSP00000446932.1:p.Gly108Asp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.977G>A
  hgvsp: ENSP00000377386.2:p.Gly326Asp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.764G>A
  hgvsp: ENSP00000377380.3:p.Gly255Asp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.297G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.212G>A
  hgvsp: ENSP00000449829.1:p.Gly71Asp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.212G>A
  hgvsp: ENSP00000397950.2:p.Gly71Asp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.1001G>A
  hgvsp: ENSP00000473445.1:p.Gly334Asp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.764G>A
  hgvsp: ENSP00000394307.2:p.Gly255Asp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.302G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.212G>A
  hgvsp: ENSP00000450256.1:p.Gly71Asp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.764G>A
  hgvsp: ENSP00000348782.2:p.Gly255Asp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.221C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.290G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.266G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.899G>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly255Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-57871049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871049
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871049
    reference: chr 12
allele count: 7
allele frequency: 6.248884127834315e-5
allele num: 112020
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.760C>T
  hgvsp: ENSP00000377380.3:p.Pro254Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.760C>T
  hgvsp: ENSP00000394307.2:p.Pro254Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.319C>T
  hgvsp: ENSP00000446932.1:p.Pro107Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.293C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.997C>T
  hgvsp: ENSP00000473445.1:p.Pro333Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.208C>T
  hgvsp: ENSP00000450256.1:p.Pro70Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.895C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.208C>T
  hgvsp: ENSP00000448424.1:p.Pro70Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.760C>T
  hgvsp: ENSP00000348782.2:p.Pro254Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.298C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.286C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.208C>T
  hgvsp: ENSP00000397950.2:p.Pro70Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.494C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.262C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.973C>T
  hgvsp: ENSP00000377386.2:p.Pro325Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.208C>T
  hgvsp: ENSP00000449829.1:p.Pro70Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.225G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.447C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro254Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

12-57871050-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871050
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871050
    reference: chr 12
allele count: 1
allele frequency: 8.928093137867613e-6
allele num: 112006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.207C>A
  hgvsp: ENSP00000450256.1:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.996C>A
  hgvsp: ENSP00000473445.1:p.Asn332Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.207C>A
  hgvsp: ENSP00000449829.1:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.292C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.207C>A
  hgvsp: ENSP00000448424.1:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.972C>A
  hgvsp: ENSP00000377386.2:p.Asn324Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.894C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.446C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.759C>A
  hgvsp: ENSP00000348782.2:p.Asn253Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.207C>A
  hgvsp: ENSP00000397950.2:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.493C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.759C>A
  hgvsp: ENSP00000377380.3:p.Asn253Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.297C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.318C>A
  hgvsp: ENSP00000446932.1:p.Asn106Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.285C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.759C>A
  hgvsp: ENSP00000394307.2:p.Asn253Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.261C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.226G>T
  variant of: http://identifiers.org/hgnc/6898
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn253Lys
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

12-57871061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871061
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871061
    reference: chr 12
allele count: 1
allele frequency: 8.977305372019535e-6
allele num: 111392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.757-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.237G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.970-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.295-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.290-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.205-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.892-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.482C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.435C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.757-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.205-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.994-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.205-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.757-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.259-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.316-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.283-9C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.205-9C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

12-57871064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871064
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871064
    reference: chr 12
allele count: 5
allele frequency: 4.493170381020848e-5
allele num: 111280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.970-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.479C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.316-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.432C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.205-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.757-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.205-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.757-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.994-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.892-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.757-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.205-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.240G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.295-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.205-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.259-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.283-12C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.290-12C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-57871069-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871069
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871069
    reference: chr 12
allele count: 1
allele frequency: 9.006412565746812e-6
allele num: 111032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.283-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.757-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.427C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.316-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.245G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.994-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.757-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.892-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.474C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.205-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.290-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.205-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.259-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.970-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.757-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.295-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.205-17C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.205-17C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-57871070-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871070
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871070
    reference: chr 12
allele count: 5
allele frequency: 4.504179878927645e-5
allele num: 111008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.259-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.205-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.757-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.205-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.283-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.205-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.316-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.295-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.205-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.473C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.892-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.757-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.970-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.246G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.757-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.994-18C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.426C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.290-18C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32518
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/12-57871083-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871083
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871083
    reference: chr 12
allele count: 1
allele frequency: 9.045517041754106e-6
allele num: 110552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.259A>C
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.460T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.295-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.757-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.316-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.205-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.970-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.994-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.259-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.757-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.283-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.892-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.205-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.413T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.757-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.205-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.290-31T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.205-31T>G
  variant of: http://identifiers.org/hgnc/14130
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

12-57871085-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871085
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871085
    reference: chr 12
allele count: 1
allele frequency: 9.06043308870164e-6
allele num: 110370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.757-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.994-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.261C>G
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.411G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.458G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.757-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.757-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.316-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.259-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.205-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.290-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.205-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.283-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.205-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.970-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.892-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.295-33G>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.205-33G>C
  variant of: http://identifiers.org/hgnc/14130
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

12-57871088-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871088
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871088
    reference: chr 12
allele count: 1
allele frequency: 9.06240371196056e-6
allele num: 110346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.994-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.316-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.283-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.264G>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.205-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.757-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.205-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.757-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.455C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.757-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.970-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.408C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.290-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.892-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.205-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.205-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.295-36C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.259-36C>A
  variant of: http://identifiers.org/hgnc/14130
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ

12-57871090-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871090
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871090
    reference: chr 12
allele count: 2
allele frequency: 1.813401033638589e-5
allele num: 110290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.205-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.406A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.295-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.757-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.453A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.283-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.266T>C
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.205-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.205-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.205-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.757-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.994-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.290-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.316-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.259-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.970-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.892-38A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.757-38A>G
  variant of: http://identifiers.org/hgnc/14130
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

12-57871206-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871206
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871206
    reference: chr 12
allele count: 1
allele frequency: 8.354916868577158e-6
allele num: 119690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.282+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.993+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.756+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.969+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.290C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.756+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.258+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.891+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.337C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.204+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.204+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.204+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.756+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.382G>C
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.289+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.204+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.315+36C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.294+36C>G
  variant of: http://identifiers.org/hgnc/14130
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9764
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

12-57871207-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871207
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871207
    reference: chr 12
allele count: 3
allele frequency: 2.50731299623903e-5
allele num: 119650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.204+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.756+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.294+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.315+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.282+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.204+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.289+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.204+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.289T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.891+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.204+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.336T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.258+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.969+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.993+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.383A>G
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.756+35T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.756+35T>C
  variant of: http://identifiers.org/hgnc/14130
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-57871209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871209
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871209
    reference: chr 12
allele count: 2
allele frequency: 1.670397220459025e-5
allele num: 119732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.315+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.289+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.204+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.258+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.204+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.969+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.204+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.756+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.287C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.294+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.756+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.334C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.756+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.385G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.891+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.282+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.204+33C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.993+33C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-57871229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871229
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871229
    reference: chr 12
allele count: 1
allele frequency: 8.31849867735871e-6
allele num: 120214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.282+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.267C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.204+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.204+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.969+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.756+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.314C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.756+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.993+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.891+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.289+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.204+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.315+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.204+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.294+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.756+13C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.258+13C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.405G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-57871234-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871234
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871234
    reference: chr 12
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.282+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.289+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.756+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.204+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.262C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.294+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.204+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.204+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.204+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.756+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.315+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.756+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.258+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.891+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.309C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.993+8C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+5G>C
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.969+8C>G
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.756+8C>G
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

12-57871235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871235
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871235
    reference: chr 12
allele count: 2
allele frequency: 1.661709234118214e-5
allele num: 120358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.294+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.891+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.204+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.756+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.258+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.282+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.261C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.204+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.204+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.969+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.315+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+6G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.756+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.756+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.308C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.993+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.204+7C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.289+7C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28347
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.756+7C>T
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

12-57871238-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871238
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871238
    reference: chr 12
allele count: 1
allele frequency: 8.302751531857658e-6
allele num: 120442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.204+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.282+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.258+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.258A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.294+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.756+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.204+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.891+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.204+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.756+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.305A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.993+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.756+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+9T>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.315+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.204+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.289+4A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.969+4A>T
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.756+4A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

12-57871241-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871241
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871241
    reference: chr 12
allele count: 2
allele frequency: 1.659310390601666e-5
allele num: 120532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.756+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.891+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.756+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.294+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.204+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.204+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+12C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.315+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.969+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.756+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.993+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.289+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.255G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.258+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.282+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.204+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.204+1G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.302G>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28432
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12885
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.756+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

12-57871242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871242
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871242
    reference: chr 12
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.301G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.254G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.993G>A
  hgvsp: ENST00000550288.1:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.294G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.289G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.204G>A
  hgvsp: ENST00000552066.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+13C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.315G>A
  hgvsp: ENST00000551452.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.204G>A
  hgvsp: ENST00000548139.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.756G>A
  hgvsp: ENST00000393791.3:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.756G>A
  hgvsp: ENST00000356411.2:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.282G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.258G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.204G>A
  hgvsp: ENST00000430041.2:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.204G>A
  hgvsp: ENST00000552604.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.891G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.969G>A
  hgvsp: ENST00000393797.2:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.756G>A
  hgvsp: ENST00000424809.2:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.756G>A
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

12-57871243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871243
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871243
    reference: chr 12
allele count: 24
allele frequency: 1.990643973325371e-4
allele num: 120564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.281C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.992C>T
  hgvsp: ENSP00000473445.1:p.Thr331Met
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.755C>T
  hgvsp: ENSP00000348782.2:p.Thr252Met
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.203C>T
  hgvsp: ENSP00000450256.1:p.Thr68Met
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.755C>T
  hgvsp: ENSP00000394307.2:p.Thr252Met
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.288C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.293C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.314C>T
  hgvsp: ENSP00000446932.1:p.Thr105Met
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.203C>T
  hgvsp: ENSP00000449829.1:p.Thr68Met
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.203C>T
  hgvsp: ENSP00000448424.1:p.Thr68Met
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.257C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+14G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.755C>T
  hgvsp: ENSP00000377380.3:p.Thr252Met
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.968C>T
  hgvsp: ENSP00000377386.2:p.Thr323Met
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.203C>T
  hgvsp: ENSP00000397950.2:p.Thr68Met
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.890C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.300C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.253C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr252Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-57871246-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871246
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871246
    reference: chr 12
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.254A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.752A>T
  hgvsp: ENSP00000377380.3:p.Glu251Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+17T>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.297A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.285A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.752A>T
  hgvsp: ENSP00000348782.2:p.Glu251Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.278A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.250A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.311A>T
  hgvsp: ENSP00000446932.1:p.Glu104Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.200A>T
  hgvsp: ENSP00000450256.1:p.Glu67Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.200A>T
  hgvsp: ENSP00000448424.1:p.Glu67Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.965A>T
  hgvsp: ENSP00000377386.2:p.Glu322Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.200A>T
  hgvsp: ENSP00000397950.2:p.Glu67Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.752A>T
  hgvsp: ENSP00000394307.2:p.Glu251Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.989A>T
  hgvsp: ENSP00000473445.1:p.Glu330Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.200A>T
  hgvsp: ENSP00000449829.1:p.Glu67Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.887A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.290A>T
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu251Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-57871247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871247
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871247
    reference: chr 12
allele count: 33
allele frequency: 2.73572861572132e-4
allele num: 120626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.199G>A
  hgvsp: ENSP00000448424.1:p.Glu67Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.964G>A
  hgvsp: ENSP00000377386.2:p.Glu322Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.199G>A
  hgvsp: ENSP00000449829.1:p.Glu67Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.249G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.751G>A
  hgvsp: ENSP00000377380.3:p.Glu251Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.310G>A
  hgvsp: ENSP00000446932.1:p.Glu104Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.988G>A
  hgvsp: ENSP00000473445.1:p.Glu330Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.284G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.296G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.253G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.751G>A
  hgvsp: ENSP00000394307.2:p.Glu251Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.289G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+18C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.199G>A
  hgvsp: ENSP00000450256.1:p.Glu67Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.751G>A
  hgvsp: ENSP00000348782.2:p.Glu251Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.199G>A
  hgvsp: ENSP00000397950.2:p.Glu67Lys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.277G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.886G>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu251Lys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-57871248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871248
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871248
    reference: chr 12
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.750C>T
  hgvsp: ENST00000424809.2:c.750C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.288C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.885C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+19G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.198C>T
  hgvsp: ENST00000548139.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.750C>T
  hgvsp: ENST00000393791.3:c.750C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.198C>T
  hgvsp: ENST00000552604.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.283C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.252C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.198C>T
  hgvsp: ENST00000430041.2:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.987C>T
  hgvsp: ENST00000550288.1:c.987C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.963C>T
  hgvsp: ENST00000393797.2:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.295C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.276C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.750C>T
  hgvsp: ENST00000356411.2:c.750C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.309C>T
  hgvsp: ENST00000551452.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.248C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.198C>T
  hgvsp: ENST00000552066.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser250Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-57871248-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871248
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871248
    reference: chr 12
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.750C>A
  hgvsp: ENSP00000348782.2:p.Ser250Arg
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.750C>A
  hgvsp: ENSP00000394307.2:p.Ser250Arg
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.198C>A
  hgvsp: ENSP00000397950.2:p.Ser66Arg
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.987C>A
  hgvsp: ENSP00000473445.1:p.Ser329Arg
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.198C>A
  hgvsp: ENSP00000448424.1:p.Ser66Arg
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.295C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.750C>A
  hgvsp: ENSP00000377380.3:p.Ser250Arg
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.283C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.252C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.276C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+19G>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.309C>A
  hgvsp: ENSP00000446932.1:p.Ser103Arg
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.198C>A
  hgvsp: ENSP00000449829.1:p.Ser66Arg
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.198C>A
  hgvsp: ENSP00000450256.1:p.Ser66Arg
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.885C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.248C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.963C>A
  hgvsp: ENSP00000377386.2:p.Ser321Arg
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.288C>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser250Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-57871252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871252
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871252
    reference: chr 12
allele count: 2
allele frequency: 1.657247974014352e-5
allele num: 120682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.279G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.244G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.983G>A
  hgvsp: ENSP00000473445.1:p.Arg328His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.272G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.284G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.194G>A
  hgvsp: ENSP00000397950.2:p.Arg65His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.746G>A
  hgvsp: ENSP00000348782.2:p.Arg249His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.194G>A
  hgvsp: ENSP00000449829.1:p.Arg65His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.305G>A
  hgvsp: ENSP00000446932.1:p.Arg102His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.194G>A
  hgvsp: ENSP00000450256.1:p.Arg65His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.746G>A
  hgvsp: ENSP00000377380.3:p.Arg249His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.959G>A
  hgvsp: ENSP00000377386.2:p.Arg320His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.248G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.291G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.746G>A
  hgvsp: ENSP00000394307.2:p.Arg249His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.881G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+23C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.194G>A
  hgvsp: ENSP00000448424.1:p.Arg65His
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg249His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-57871253-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871253
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871253
    reference: chr 12
allele count: 4
allele frequency: 3.313397723695764e-5
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.290C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.193C>T
  hgvsp: ENSP00000449829.1:p.Arg65Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.283C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.193C>T
  hgvsp: ENSP00000450256.1:p.Arg65Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.982C>T
  hgvsp: ENSP00000473445.1:p.Arg328Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.193C>T
  hgvsp: ENSP00000397950.2:p.Arg65Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.304C>T
  hgvsp: ENSP00000446932.1:p.Arg102Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.958C>T
  hgvsp: ENSP00000377386.2:p.Arg320Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.745C>T
  hgvsp: ENSP00000394307.2:p.Arg249Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.193C>T
  hgvsp: ENSP00000448424.1:p.Arg65Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.745C>T
  hgvsp: ENSP00000377380.3:p.Arg249Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.745C>T
  hgvsp: ENSP00000348782.2:p.Arg249Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.880C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.271C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.278C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+24G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.243C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.247C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg249Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-57871253-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871253
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871253
    reference: chr 12
allele count: 2
allele frequency: 1.656698861847882e-5
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.745C>A
  hgvsp: ENSP00000348782.2:p.Arg249Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.193C>A
  hgvsp: ENSP00000397950.2:p.Arg65Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+24G>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.958C>A
  hgvsp: ENSP00000377386.2:p.Arg320Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.271C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.880C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.982C>A
  hgvsp: ENSP00000473445.1:p.Arg328Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.304C>A
  hgvsp: ENSP00000446932.1:p.Arg102Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.247C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.193C>A
  hgvsp: ENSP00000448424.1:p.Arg65Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.745C>A
  hgvsp: ENSP00000377380.3:p.Arg249Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.193C>A
  hgvsp: ENSP00000450256.1:p.Arg65Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.745C>A
  hgvsp: ENSP00000394307.2:p.Arg249Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.290C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.193C>A
  hgvsp: ENSP00000449829.1:p.Arg65Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.243C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.283C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.278C>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg249Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-57871257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871257
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871257
    reference: chr 12
allele count: 7
allele frequency: 5.799310710498409e-5
allele num: 120704
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.741C>T
  hgvsp: ENST00000393791.3:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.189C>T
  hgvsp: ENST00000430041.2:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.978C>T
  hgvsp: ENST00000550288.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.300C>T
  hgvsp: ENST00000551452.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.274C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.189C>T
  hgvsp: ENST00000548139.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.243C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.267C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.954C>T
  hgvsp: ENST00000393797.2:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.741C>T
  hgvsp: ENST00000356411.2:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.286C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.741C>T
  hgvsp: ENST00000424809.2:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.189C>T
  hgvsp: ENST00000552604.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.189C>T
  hgvsp: ENST00000552066.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.876C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.239C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+28G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.279C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12856
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg247Arg
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: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-57871258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871258
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871258
    reference: chr 12
allele count: 11
allele frequency: 9.113051546733385e-5
allele num: 120706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.188G>A
  hgvsp: ENSP00000449829.1:p.Arg63His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.299G>A
  hgvsp: ENSP00000446932.1:p.Arg100His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+29C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.188G>A
  hgvsp: ENSP00000397950.2:p.Arg63His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.242G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.188G>A
  hgvsp: ENSP00000448424.1:p.Arg63His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.740G>A
  hgvsp: ENSP00000394307.2:p.Arg247His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.740G>A
  hgvsp: ENSP00000348782.2:p.Arg247His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.285G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.188G>A
  hgvsp: ENSP00000450256.1:p.Arg63His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.740G>A
  hgvsp: ENSP00000377380.3:p.Arg247His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.273G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.977G>A
  hgvsp: ENSP00000473445.1:p.Arg326His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.953G>A
  hgvsp: ENSP00000377386.2:p.Arg318His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.278G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.875G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.238G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.266G>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg247His
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-57871258-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871258
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871258
    reference: chr 12
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.238G>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.242G>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.740G>T
  hgvsp: ENSP00000348782.2:p.Arg247Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.188G>T
  hgvsp: ENSP00000450256.1:p.Arg63Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.188G>T
  hgvsp: ENSP00000397950.2:p.Arg63Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.278G>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.285G>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.875G>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.273G>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.977G>T
  hgvsp: ENSP00000473445.1:p.Arg326Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.299G>T
  hgvsp: ENSP00000446932.1:p.Arg100Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.740G>T
  hgvsp: ENSP00000377380.3:p.Arg247Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.188G>T
  hgvsp: ENSP00000449829.1:p.Arg63Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.953G>T
  hgvsp: ENSP00000377386.2:p.Arg318Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.740G>T
  hgvsp: ENSP00000394307.2:p.Arg247Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+29C>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.266G>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.188G>T
  hgvsp: ENSP00000448424.1:p.Arg63Leu
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg247Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

12-57871259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871259
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871259
    reference: chr 12
allele count: 3
allele frequency: 2.485501242750621e-5
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.187C>T
  hgvsp: ENSP00000448424.1:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.739C>T
  hgvsp: ENSP00000394307.2:p.Arg247Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+30G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.976C>T
  hgvsp: ENSP00000473445.1:p.Arg326Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.237C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.739C>T
  hgvsp: ENSP00000348782.2:p.Arg247Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.265C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.272C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.874C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.952C>T
  hgvsp: ENSP00000377386.2:p.Arg318Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.187C>T
  hgvsp: ENSP00000397950.2:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.187C>T
  hgvsp: ENSP00000450256.1:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.277C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.284C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.241C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.187C>T
  hgvsp: ENSP00000449829.1:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.739C>T
  hgvsp: ENSP00000377380.3:p.Arg247Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.298C>T
  hgvsp: ENSP00000446932.1:p.Arg100Cys
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg247Cys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-57871261-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871261
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871261
    reference: chr 12
allele count: 4
allele frequency: 3.313727114572115e-5
allele num: 120710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.737G>A
  hgvsp: ENSP00000394307.2:p.Arg246His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.282G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.239G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.737G>A
  hgvsp: ENSP00000348782.2:p.Arg246His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.185G>A
  hgvsp: ENSP00000450256.1:p.Arg62His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.296G>A
  hgvsp: ENSP00000446932.1:p.Arg99His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.235G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.185G>A
  hgvsp: ENSP00000449829.1:p.Arg62His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.185G>A
  hgvsp: ENSP00000397950.2:p.Arg62His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.737G>A
  hgvsp: ENSP00000377380.3:p.Arg246His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.270G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.185G>A
  hgvsp: ENSP00000448424.1:p.Arg62His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+32C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.275G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.950G>A
  hgvsp: ENSP00000377386.2:p.Arg317His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.263G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.974G>A
  hgvsp: ENSP00000473445.1:p.Arg325His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.872G>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28517
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg246His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-57871262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871262
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871262
    reference: chr 12
allele count: 11
allele frequency: 9.112145661790288e-5
allele num: 120718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.871C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.274C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.184C>T
  hgvsp: ENSP00000448424.1:p.Arg62Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.269C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.295C>T
  hgvsp: ENSP00000446932.1:p.Arg99Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.234C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.184C>T
  hgvsp: ENSP00000450256.1:p.Arg62Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.949C>T
  hgvsp: ENSP00000377386.2:p.Arg317Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.184C>T
  hgvsp: ENSP00000397950.2:p.Arg62Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.262C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.184C>T
  hgvsp: ENSP00000449829.1:p.Arg62Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.973C>T
  hgvsp: ENSP00000473445.1:p.Arg325Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.736C>T
  hgvsp: ENSP00000377380.3:p.Arg246Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.281C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.736C>T
  hgvsp: ENSP00000394307.2:p.Arg246Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.238C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.736C>T
  hgvsp: ENSP00000348782.2:p.Arg246Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+33G>A
  variant of: http://identifiers.org/hgnc/6898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg246Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-57871263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871263
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871263
    reference: chr 12
allele count: 3
allele frequency: 2.485171808211008e-5
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.948G>A
  hgvsp: ENST00000393797.2:c.948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.233G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.183G>A
  hgvsp: ENST00000548139.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.183G>A
  hgvsp: ENST00000552604.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.183G>A
  hgvsp: ENST00000430041.2:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.280G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.735G>A
  hgvsp: ENST00000424809.2:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.261G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.294G>A
  hgvsp: ENST00000551452.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.972G>A
  hgvsp: ENST00000550288.1:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.237G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.183G>A
  hgvsp: ENST00000549602.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.735G>A
  hgvsp: ENST00000356411.2:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.268G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.273G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.870G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+34C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.183G>A
  hgvsp: ENST00000552066.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.735G>A
  hgvsp: ENST00000393791.3:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Pro245Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-57871264-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871264
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871264
    reference: chr 12
allele count: 8
allele frequency: 6.626246562634596e-5
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.182C>T
  hgvsp: ENSP00000450256.1:p.Pro61Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.182C>T
  hgvsp: ENSP00000449829.1:p.Pro61Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.182C>T
  hgvsp: ENSP00000448424.1:p.Pro61Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.734C>T
  hgvsp: ENSP00000348782.2:p.Pro245Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.182C>T
  hgvsp: ENSP00000397950.2:p.Pro61Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.734C>T
  hgvsp: ENSP00000377380.3:p.Pro245Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.182C>T
  hgvsp: ENSP00000450223.1:p.Pro61Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.232C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.293C>T
  hgvsp: ENSP00000446932.1:p.Pro98Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.236C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.272C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.971C>T
  hgvsp: ENSP00000473445.1:p.Pro324Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.734C>T
  hgvsp: ENSP00000394307.2:p.Pro245Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+35G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.267C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.260C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.869C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.279C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.947C>T
  hgvsp: ENSP00000377386.2:p.Pro316Leu
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro245Leu
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: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-57871276-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871276
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871276
    reference: chr 12
allele count: 3
allele frequency: 2.484184028352821e-5
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+47G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.281C>T
  hgvsp: ENSP00000446932.1:p.Ser94Phe
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.857C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.255C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.722C>T
  hgvsp: ENSP00000394307.2:p.Ser241Phe
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.260C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.224C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.248C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.170C>T
  hgvsp: ENSP00000450256.1:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.170C>T
  hgvsp: ENSP00000449829.1:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.722C>T
  hgvsp: ENSP00000348782.2:p.Ser241Phe
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.170C>T
  hgvsp: ENSP00000450223.1:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.722C>T
  hgvsp: ENSP00000377380.3:p.Ser241Phe
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.170C>T
  hgvsp: ENSP00000397950.2:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.220C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.935C>T
  hgvsp: ENSP00000377386.2:p.Ser312Phe
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.170C>T
  hgvsp: ENSP00000448424.1:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.959C>T
  hgvsp: ENSP00000473445.1:p.Ser320Phe
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.267C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser241Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum

12-57871292-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871292
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871292
    reference: chr 12
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.154C>G
  hgvsp: ENSP00000397950.2:p.Leu52Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.232C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.154C>G
  hgvsp: ENSP00000450223.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.239C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.706C>G
  hgvsp: ENSP00000377380.3:p.Leu236Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.706C>G
  hgvsp: ENSP00000394307.2:p.Leu236Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.265C>G
  hgvsp: ENSP00000446932.1:p.Leu89Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.154C>G
  hgvsp: ENSP00000450256.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.208C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.154C>G
  hgvsp: ENSP00000448424.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.154C>G
  hgvsp: ENSP00000449829.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.943C>G
  hgvsp: ENSP00000473445.1:p.Leu315Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.706C>G
  hgvsp: ENSP00000348782.2:p.Leu236Val
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.841C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.204C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.244C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+63G>C
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.251C>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.919C>G
  hgvsp: ENSP00000377386.2:p.Leu307Val
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu236Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-57871308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871308
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871308
    reference: chr 12
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.249C>T
  hgvsp: ENST00000551452.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.138C>T
  hgvsp: ENST00000552066.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.138C>T
  hgvsp: ENST00000548139.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.690C>T
  hgvsp: ENST00000356411.2:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.138C>T
  hgvsp: ENST00000552604.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+79G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.825C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.216C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.188C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.903C>T
  hgvsp: ENST00000393797.2:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.138C>T
  hgvsp: ENST00000430041.2:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.138C>T
  hgvsp: ENST00000549602.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.690C>T
  hgvsp: ENST00000393791.3:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.223C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.690C>T
  hgvsp: ENST00000424809.2:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.192C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.927C>T
  hgvsp: ENST00000550288.1:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.228C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.235C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys230Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

12-57871312-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871312
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871312
    reference: chr 12
allele count: 2
allele frequency: 1.658594838452863e-5
allele num: 120584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.134G>A
  hgvsp: ENSP00000450256.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.224G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.899G>A
  hgvsp: ENSP00000377386.2:p.Arg300His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.231G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+83C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.923G>A
  hgvsp: ENSP00000473445.1:p.Arg308His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.219G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.134G>A
  hgvsp: ENSP00000397950.2:p.Arg45His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.134G>A
  hgvsp: ENSP00000450223.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.134G>A
  hgvsp: ENSP00000448424.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.212G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.686G>A
  hgvsp: ENSP00000377380.3:p.Arg229His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.188G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.245G>A
  hgvsp: ENSP00000446932.1:p.Arg82His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.184G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.134G>A
  hgvsp: ENSP00000449829.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.686G>A
  hgvsp: ENSP00000394307.2:p.Arg229His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.686G>A
  hgvsp: ENSP00000348782.2:p.Arg229His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.821G>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg229His
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-57871313-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871313
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871313
    reference: chr 12
allele count: 4
allele frequency: 3.318235362434257e-5
allele num: 120546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.922C>T
  hgvsp: ENSP00000473445.1:p.Arg308Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.685C>T
  hgvsp: ENSP00000377380.3:p.Arg229Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.133C>T
  hgvsp: ENSP00000450223.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.685C>T
  hgvsp: ENSP00000394307.2:p.Arg229Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.133C>T
  hgvsp: ENSP00000449829.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.223C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.898C>T
  hgvsp: ENSP00000377386.2:p.Arg300Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.133C>T
  hgvsp: ENSP00000448424.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.230C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.685C>T
  hgvsp: ENSP00000348782.2:p.Arg229Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.133C>T
  hgvsp: ENSP00000450256.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.133C>T
  hgvsp: ENSP00000397950.2:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.187C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.183C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.211C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.218C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.820C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.244C>T
  hgvsp: ENSP00000446932.1:p.Arg82Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+84G>A
  variant of: http://identifiers.org/hgnc/6898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg229Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

12-57871321-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871321
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871321
    reference: chr 12
allele count: 1
allele frequency: 8.302200083022e-6
allele num: 120450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.914A>G
  hgvsp: ENSP00000473445.1:p.Asn305Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.812A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.125A>G
  hgvsp: ENSP00000397950.2:p.Asn42Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.125A>G
  hgvsp: ENSP00000450223.1:p.Asn42Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.179A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.125A>G
  hgvsp: ENSP00000448424.1:p.Asn42Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.203A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.215A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.677A>G
  hgvsp: ENSP00000348782.2:p.Asn226Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.125A>G
  hgvsp: ENSP00000450256.1:p.Asn42Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.677A>G
  hgvsp: ENSP00000394307.2:p.Asn226Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.210A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.677A>G
  hgvsp: ENSP00000377380.3:p.Asn226Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.125A>G
  hgvsp: ENSP00000449829.1:p.Asn42Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.222A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.236A>G
  hgvsp: ENSP00000446932.1:p.Asn79Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+92T>C
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.175A>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.890A>G
  hgvsp: ENSP00000377386.2:p.Asn297Ser
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn226Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-57871336-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871336
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871336
    reference: chr 12
allele count: 1
allele frequency: 8.334166750008334e-6
allele num: 119988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.875A>T
  hgvsp: ENSP00000377386.2:p.Gln292Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.110A>T
  hgvsp: ENSP00000448424.1:p.Gln37Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.110A>T
  hgvsp: ENSP00000449829.1:p.Gln37Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.899A>T
  hgvsp: ENSP00000473445.1:p.Gln300Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.188A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.110A>T
  hgvsp: ENSP00000450223.1:p.Gln37Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.200A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.662A>T
  hgvsp: ENSP00000348782.2:p.Gln221Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.160A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.110A>T
  hgvsp: ENSP00000450256.1:p.Gln37Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.221A>T
  hgvsp: ENSP00000446932.1:p.Gln74Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.416A>T
  hgvsp: ENSP00000448358.1:p.Gln139Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.110A>T
  hgvsp: ENSP00000397950.2:p.Gln37Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.662A>T
  hgvsp: ENSP00000394307.2:p.Gln221Leu
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.164A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.207A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.797A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+107T>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.195A>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.662A>T
  hgvsp: ENSP00000377380.3:p.Gln221Leu
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln221Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-57871359-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871359
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871359
    reference: chr 12
allele count: 2
allele frequency: 1.684295627568551e-5
allele num: 118744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.87G>A
  hgvsp: ENST00000548139.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.876G>A
  hgvsp: ENST00000550288.1:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.87G>A
  hgvsp: ENST00000430041.2:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.87G>A
  hgvsp: ENST00000552604.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.639G>A
  hgvsp: ENST00000393791.3:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.177G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.393G>A
  hgvsp: ENST00000552249.1:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.87G>A
  hgvsp: ENST00000549602.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.852G>A
  hgvsp: ENST00000393797.2:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.141G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.639G>A
  hgvsp: ENST00000356411.2:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.639G>A
  hgvsp: ENST00000424809.2:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.198G>A
  hgvsp: ENST00000551452.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.87G>A
  hgvsp: ENST00000552066.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.172G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.165G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+130C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.137G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.774G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.184G>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu213Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP

12-57871368-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871368
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871368
    reference: chr 12
allele count: 1
allele frequency: 8.444947387977773e-6
allele num: 118414
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.867C>T
  hgvsp: ENST00000550288.1:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.843C>T
  hgvsp: ENST00000393797.2:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.630C>T
  hgvsp: ENST00000424809.2:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.630C>T
  hgvsp: ENST00000393791.3:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.189C>T
  hgvsp: ENST00000551452.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.132C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.78C>T
  hgvsp: ENST00000548139.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.156C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.78C>T
  hgvsp: ENST00000552604.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.78C>T
  hgvsp: ENST00000430041.2:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.384C>T
  hgvsp: ENST00000552249.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.78C>T
  hgvsp: ENST00000549602.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.630C>T
  hgvsp: ENST00000356411.2:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.163C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+139G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.128C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.765C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.168C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.78C>T
  hgvsp: ENST00000552066.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.175C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys210Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-57871370-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871370
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871370
    reference: chr 12
allele count: 1
allele frequency: 8.446516656530846e-6
allele num: 118392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.865T>G
  hgvsp: ENSP00000473445.1:p.Cys289Gly
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.628T>G
  hgvsp: ENSP00000377380.3:p.Cys210Gly
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.628T>G
  hgvsp: ENSP00000394307.2:p.Cys210Gly
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.76T>G
  hgvsp: ENSP00000450256.1:p.Cys26Gly
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.76T>G
  hgvsp: ENSP00000397950.2:p.Cys26Gly
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.76T>G
  hgvsp: ENSP00000448424.1:p.Cys26Gly
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.161T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.187T>G
  hgvsp: ENSP00000446932.1:p.Cys63Gly
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.841T>G
  hgvsp: ENSP00000377386.2:p.Cys281Gly
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.628T>G
  hgvsp: ENSP00000348782.2:p.Cys210Gly
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.76T>G
  hgvsp: ENSP00000449829.1:p.Cys26Gly
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.154T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.382T>G
  hgvsp: ENSP00000448358.1:p.Cys128Gly
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.173T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.130T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.76T>G
  hgvsp: ENSP00000450223.1:p.Cys26Gly
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+141A>C
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.763T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.166T>G
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.126T>G
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys210Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-57871374-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871374
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871374
    reference: chr 12
allele count: 3
allele frequency: 2.540392236561325e-5
allele num: 118092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.72T>C
  hgvsp: ENST00000552604.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.183T>C
  hgvsp: ENST00000551452.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.122T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.378T>C
  hgvsp: ENST00000552249.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.624T>C
  hgvsp: ENST00000424809.2:c.624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.624T>C
  hgvsp: ENST00000356411.2:c.624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.157T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.624T>C
  hgvsp: ENST00000393791.3:c.624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.169T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.72T>C
  hgvsp: ENST00000430041.2:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.150T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.72T>C
  hgvsp: ENST00000549602.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.162T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+145A>G
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.72T>C
  hgvsp: ENST00000548139.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.837T>C
  hgvsp: ENST00000393797.2:c.837T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.72T>C
  hgvsp: ENST00000552066.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.861T>C
  hgvsp: ENST00000550288.1:c.861T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.759T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.126T>C
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro208Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-57871383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871383
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871383
    reference: chr 12
allele count: 1
allele frequency: 8.488964346349745e-6
allele num: 117800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.369C>T
  hgvsp: ENST00000552249.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.148C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.63C>T
  hgvsp: ENST00000552066.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.615C>T
  hgvsp: ENST00000424809.2:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.153C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.828C>T
  hgvsp: ENST00000393797.2:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.63C>T
  hgvsp: ENST00000549602.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.117C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.750C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.174C>T
  hgvsp: ENST00000551452.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.141C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.615C>T
  hgvsp: ENST00000356411.2:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.160C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.63C>T
  hgvsp: ENST00000430041.2:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.852C>T
  hgvsp: ENST00000550288.1:c.852C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.63C>T
  hgvsp: ENST00000552604.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.63C>T
  hgvsp: ENST00000548139.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+154G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.113C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.615C>T
  hgvsp: ENST00000393791.3:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro205Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

12-57871388-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871388
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871388
    reference: chr 12
allele count: 312
allele frequency: 2.652474792987945e-3
allele num: 117626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.58C>T
  hgvsp: ENSP00000450256.1:p.Pro20Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.610C>T
  hgvsp: ENSP00000377380.3:p.Pro204Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.148C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.143C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.58C>T
  hgvsp: ENSP00000450223.1:p.Pro20Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.364C>T
  hgvsp: ENSP00000448358.1:p.Pro122Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+159G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.58C>T
  hgvsp: ENSP00000397950.2:p.Pro20Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.58C>T
  hgvsp: ENSP00000448424.1:p.Pro20Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.745C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.610C>T
  hgvsp: ENSP00000348782.2:p.Pro204Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.136C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.610C>T
  hgvsp: ENSP00000394307.2:p.Pro204Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.847C>T
  hgvsp: ENSP00000473445.1:p.Pro283Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.169C>T
  hgvsp: ENSP00000446932.1:p.Pro57Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.112C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.108C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.155C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.58C>T
  hgvsp: ENSP00000449829.1:p.Pro20Ser
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.823C>T
  hgvsp: ENSP00000377386.2:p.Pro275Ser
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro204Ser
num of homozygotes: 1
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

12-57871389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871389
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871389
    reference: chr 12
allele count: 1
allele frequency: 8.505426462082808e-6
allele num: 117572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.168C>T
  hgvsp: ENST00000551452.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.609C>T
  hgvsp: ENST00000393791.3:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.57C>T
  hgvsp: ENST00000548139.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.142C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.107C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.609C>T
  hgvsp: ENST00000356411.2:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.135C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.57C>T
  hgvsp: ENST00000430041.2:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.744C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.846C>T
  hgvsp: ENST00000550288.1:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.57C>T
  hgvsp: ENST00000552604.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.57C>T
  hgvsp: ENST00000552066.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.154C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.57C>T
  hgvsp: ENST00000549602.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.609C>T
  hgvsp: ENST00000424809.2:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+160G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.363C>T
  hgvsp: ENST00000552249.1:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.822C>T
  hgvsp: ENST00000393797.2:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.147C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.111C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser203Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

12-57871389-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871389
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871389
    reference: chr 12
allele count: 1
allele frequency: 8.505426462082808e-6
allele num: 117572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.363C>A
  hgvsp: ENST00000552249.1:c.363C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.168C>A
  hgvsp: ENST00000551452.1:c.168C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.609C>A
  hgvsp: ENST00000356411.2:c.609C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.142C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.154C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.57C>A
  hgvsp: ENST00000548139.1:c.57C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.609C>A
  hgvsp: ENST00000424809.2:c.609C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.147C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.57C>A
  hgvsp: ENST00000549602.1:c.57C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.57C>A
  hgvsp: ENST00000552066.1:c.57C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.609C>A
  hgvsp: ENST00000393791.3:c.609C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.57C>A
  hgvsp: ENST00000430041.2:c.57C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.822C>A
  hgvsp: ENST00000393797.2:c.822C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.57C>A
  hgvsp: ENST00000552604.1:c.57C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.846C>A
  hgvsp: ENST00000550288.1:c.846C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.107C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+160G>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.111C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.744C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.135C>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser203Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

12-57871390-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871390
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871390
    reference: chr 12
allele count: 2
allele frequency: 1.700969552645008e-5
allele num: 117580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.153C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.141C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.56C>A
  hgvsp: ENSP00000397950.2:p.Ser19Tyr
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.362C>A
  hgvsp: ENSP00000448358.1:p.Ser121Tyr
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.821C>A
  hgvsp: ENSP00000377386.2:p.Ser274Tyr
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.845C>A
  hgvsp: ENSP00000473445.1:p.Ser282Tyr
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.608C>A
  hgvsp: ENSP00000394307.2:p.Ser203Tyr
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+161G>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.743C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.56C>A
  hgvsp: ENSP00000448424.1:p.Ser19Tyr
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.106C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.167C>A
  hgvsp: ENSP00000446932.1:p.Ser56Tyr
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.608C>A
  hgvsp: ENSP00000377380.3:p.Ser203Tyr
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.56C>A
  hgvsp: ENSP00000450256.1:p.Ser19Tyr
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.608C>A
  hgvsp: ENSP00000348782.2:p.Ser203Tyr
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.110C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.56C>A
  hgvsp: ENSP00000449829.1:p.Ser19Tyr
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.146C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.134C>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.56C>A
  hgvsp: ENSP00000450223.1:p.Ser19Tyr
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser203Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

12-57871392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871392
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871392
    reference: chr 12
allele count: 6
allele frequency: 5.111080823224751e-5
allele num: 117392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.144G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.819G>A
  hgvsp: ENST00000393797.2:c.819G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.108G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.104G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.606G>A
  hgvsp: ENST00000424809.2:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.54G>A
  hgvsp: ENST00000548139.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+163C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.54G>A
  hgvsp: ENST00000549602.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.132G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.360G>A
  hgvsp: ENST00000552249.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.606G>A
  hgvsp: ENST00000393791.3:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.54G>A
  hgvsp: ENST00000552604.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.606G>A
  hgvsp: ENST00000356411.2:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.741G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.54G>A
  hgvsp: ENST00000552066.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.151G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.843G>A
  hgvsp: ENST00000550288.1:c.843G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.165G>A
  hgvsp: ENST00000551452.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.54G>A
  hgvsp: ENST00000430041.2:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.139G>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg202Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

12-57871393-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871393
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871393
    reference: chr 12
allele count: 2
allele frequency: 1.704971697469822e-5
allele num: 117304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+164C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.605G>A
  hgvsp: ENSP00000348782.2:p.Arg202Gln
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.138G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.53G>A
  hgvsp: ENSP00000450256.1:p.Arg18Gln
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.131G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.53G>A
  hgvsp: ENSP00000449829.1:p.Arg18Gln
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.359G>A
  hgvsp: ENSP00000448358.1:p.Arg120Gln
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.164G>A
  hgvsp: ENSP00000446932.1:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.143G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.818G>A
  hgvsp: ENSP00000377386.2:p.Arg273Gln
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.53G>A
  hgvsp: ENSP00000448424.1:p.Arg18Gln
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.53G>A
  hgvsp: ENSP00000397950.2:p.Arg18Gln
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.605G>A
  hgvsp: ENSP00000377380.3:p.Arg202Gln
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.53G>A
  hgvsp: ENSP00000450223.1:p.Arg18Gln
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.842G>A
  hgvsp: ENSP00000473445.1:p.Arg281Gln
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.740G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.103G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.107G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.605G>A
  hgvsp: ENSP00000394307.2:p.Arg202Gln
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.150G>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg202Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

12-57871394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871394
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871394
    reference: chr 12
allele count: 3
allele frequency: 2.555714577795952e-5
allele num: 117384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.841C>T
  hgvsp: ENSP00000473445.1:p.Arg281Trp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.149C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.604C>T
  hgvsp: ENSP00000394307.2:p.Arg202Trp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.817C>T
  hgvsp: ENSP00000377386.2:p.Arg273Trp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.52C>T
  hgvsp: ENSP00000397950.2:p.Arg18Trp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.102C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.130C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.137C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.52C>T
  hgvsp: ENSP00000449829.1:p.Arg18Trp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.739C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.52C>T
  hgvsp: ENSP00000450223.1:p.Arg18Trp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.52C>T
  hgvsp: ENSP00000448424.1:p.Arg18Trp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.604C>T
  hgvsp: ENSP00000377380.3:p.Arg202Trp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.358C>T
  hgvsp: ENSP00000448358.1:p.Arg120Trp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.52C>T
  hgvsp: ENSP00000450256.1:p.Arg18Trp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.106C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.163C>T
  hgvsp: ENSP00000446932.1:p.Arg55Trp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.142C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.604C>T
  hgvsp: ENSP00000348782.2:p.Arg202Trp
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+165G>A
  variant of: http://identifiers.org/hgnc/6898
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg202Trp
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-57871402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871402
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871402
    reference: chr 12
allele count: 24
allele frequency: 2.050896412640358e-4
allele num: 117022
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.596G>A
  hgvsp: ENSP00000377380.3:p.Arg199His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.44G>A
  hgvsp: ENSP00000448424.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.833G>A
  hgvsp: ENSP00000473445.1:p.Arg278His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.596G>A
  hgvsp: ENSP00000348782.2:p.Arg199His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.122G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.44G>A
  hgvsp: ENSP00000450223.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.596G>A
  hgvsp: ENSP00000394307.2:p.Arg199His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.44G>A
  hgvsp: ENSP00000450256.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.155G>A
  hgvsp: ENSP00000446932.1:p.Arg52His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.44G>A
  hgvsp: ENSP00000449829.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.809G>A
  hgvsp: ENSP00000377386.2:p.Arg270His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.44G>A
  hgvsp: ENSP00000397950.2:p.Arg15His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.350G>A
  hgvsp: ENSP00000448358.1:p.Arg117His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.731G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+173C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.94G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.98G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.129G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.134G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.141G>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg199His
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-57871403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871403
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871403
    reference: chr 12
allele count: 7
allele frequency: 5.979737233261007e-5
allele num: 117062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.128C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.595C>T
  hgvsp: ENSP00000394307.2:p.Arg199Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.808C>T
  hgvsp: ENSP00000377386.2:p.Arg270Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.140C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.595C>T
  hgvsp: ENSP00000348782.2:p.Arg199Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.154C>T
  hgvsp: ENSP00000446932.1:p.Arg52Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.43C>T
  hgvsp: ENSP00000397950.2:p.Arg15Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.43C>T
  hgvsp: ENSP00000449829.1:p.Arg15Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.133C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+174G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.43C>T
  hgvsp: ENSP00000450256.1:p.Arg15Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.43C>T
  hgvsp: ENSP00000450223.1:p.Arg15Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.730C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.349C>T
  hgvsp: ENSP00000448358.1:p.Arg117Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.93C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.121C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.832C>T
  hgvsp: ENSP00000473445.1:p.Arg278Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.595C>T
  hgvsp: ENSP00000377380.3:p.Arg199Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.43C>T
  hgvsp: ENSP00000448424.1:p.Arg15Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.97C>T
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg199Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

12-57871404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871404
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871404
    reference: chr 12
allele count: 1
allele frequency: 8.544379507160189e-6
allele num: 117036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.42C>T
  hgvsp: ENST00000430041.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.42C>T
  hgvsp: ENST00000548139.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.120C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.594C>T
  hgvsp: ENST00000356411.2:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.831C>T
  hgvsp: ENST00000550288.1:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.139C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.153C>T
  hgvsp: ENST00000551452.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.42C>T
  hgvsp: ENST00000549602.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.127C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.594C>T
  hgvsp: ENST00000424809.2:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.132C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.96C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.594C>T
  hgvsp: ENST00000393791.3:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.42C>T
  hgvsp: ENST00000552604.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.42C>T
  hgvsp: ENST00000552066.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.348C>T
  hgvsp: ENST00000552249.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.729C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+175G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.92C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.807C>T
  hgvsp: ENST00000393797.2:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg198Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-57871405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871405
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871405
    reference: chr 12
allele count: 2
allele frequency: 1.710395785584784e-5
allele num: 116932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.41G>A
  hgvsp: ENSP00000450223.1:p.Arg14His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+176C>T
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.131G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.41G>A
  hgvsp: ENSP00000397950.2:p.Arg14His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.347G>A
  hgvsp: ENSP00000448358.1:p.Arg116His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.593G>A
  hgvsp: ENSP00000377380.3:p.Arg198His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.126G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.806G>A
  hgvsp: ENSP00000377386.2:p.Arg269His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.593G>A
  hgvsp: ENSP00000348782.2:p.Arg198His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.91G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.41G>A
  hgvsp: ENSP00000449829.1:p.Arg14His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.830G>A
  hgvsp: ENSP00000473445.1:p.Arg277His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.41G>A
  hgvsp: ENSP00000450256.1:p.Arg14His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.152G>A
  hgvsp: ENSP00000446932.1:p.Arg51His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.593G>A
  hgvsp: ENSP00000394307.2:p.Arg198His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.728G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.41G>A
  hgvsp: ENSP00000448424.1:p.Arg14His
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.138G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.119G>A
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.95G>A
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg198His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

12-57871406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871406
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871406
    reference: chr 12
allele count: 3
allele frequency: 2.564760194921775e-5
allele num: 116970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166986
  ensembl transcript: ENST00000549133
  gene symbol: MARS
  hgvsc: ENST00000549133.1:n.405+177G>A
  variant of: http://identifiers.org/hgnc/6898
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000394307
  ensembl transcript: ENST00000424809
  gene symbol: ARHGAP9
  hgvsc: ENST00000424809.2:c.592C>T
  hgvsp: ENSP00000394307.2:p.Arg198Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000546200
  gene symbol: ARHGAP9
  hgvsc: ENST00000546200.1:n.125C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.151C>T
  hgvsp: ENSP00000446932.1:p.Arg51Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.130C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.346C>T
  hgvsp: ENSP00000448358.1:p.Arg116Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000552420
  gene symbol: ARHGAP9
  hgvsc: ENST00000552420.1:n.727C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.592C>T
  hgvsp: ENSP00000377380.3:p.Arg198Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.118C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.829C>T
  hgvsp: ENSP00000473445.1:p.Arg277Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.137C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000449829
  ensembl transcript: ENST00000548139
  gene symbol: ARHGAP9
  hgvsc: ENST00000548139.1:c.40C>T
  hgvsp: ENSP00000449829.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450223
  ensembl transcript: ENST00000549602
  gene symbol: ARHGAP9
  hgvsc: ENST00000549602.1:c.40C>T
  hgvsp: ENSP00000450223.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000450256
  ensembl transcript: ENST00000552604
  gene symbol: ARHGAP9
  hgvsc: ENST00000552604.1:c.40C>T
  hgvsp: ENSP00000450256.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.94C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000547216
  gene symbol: ARHGAP9
  hgvsc: ENST00000547216.1:n.90C>T
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448424
  ensembl transcript: ENST00000552066
  gene symbol: ARHGAP9
  hgvsc: ENST00000552066.1:c.40C>T
  hgvsp: ENSP00000448424.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377386
  ensembl transcript: ENST00000393797
  gene symbol: ARHGAP9
  hgvsc: ENST00000393797.2:c.805C>T
  hgvsp: ENSP00000377386.2:p.Arg269Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000397950
  ensembl transcript: ENST00000430041
  gene symbol: ARHGAP9
  hgvsc: ENST00000430041.2:c.40C>T
  hgvsp: ENSP00000397950.2:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.592C>T
  hgvsp: ENSP00000348782.2:p.Arg198Cys
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg198Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

12-57871417-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57871417
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57871417
    reference: chr 12
allele count: 1
allele frequency: 8.590770076629668e-6
allele num: 116404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000448358
  ensembl transcript: ENST00000552249
  gene symbol: ARHGAP9
  hgvsc: ENST00000552249.1:c.335T>C
  hgvsp: ENSP00000448358.1:p.Leu112Pro
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000377380
  ensembl transcript: ENST00000393791
  gene symbol: ARHGAP9
  hgvsc: ENST00000393791.3:c.581T>C
  hgvsp: ENSP00000377380.3:p.Leu194Pro
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551000
  gene symbol: ARHGAP9
  hgvsc: ENST00000551000.1:n.126T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000446932
  ensembl transcript: ENST00000551452
  gene symbol: ARHGAP9
  hgvsc: ENST00000551452.1:c.140T>C
  hgvsp: ENSP00000446932.1:p.Leu47Pro
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000473445
  ensembl transcript: ENST00000550288
  gene symbol: ARHGAP9
  hgvsc: ENST00000550288.1:c.818T>C
  hgvsp: ENSP00000473445.1:p.Leu273Pro
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000551574
  gene symbol: ARHGAP9
  hgvsc: ENST00000551574.1:n.83T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000548148
  gene symbol: ARHGAP9
  hgvsc: ENST00000548148.1:n.107T>C
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123329
  ensembl protein: ENSP00000348782
  ensembl transcript: ENST00000356411
  gene symbol: ARHGAP9
  hgvsc: ENST00000356411.2:c.581T>C
  hgvsp: ENSP00000348782.2:p.Leu194Pro
  variant of: http://identifiers.org/hgnc/14130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123329
  ensembl transcript: ENST00000550454
  gene symbol: ARHGAP9
  hgvsc: ENST00000550454.1:n.119T>C
  variant of: http://identifiers.org/hgnc/14130
canonical: true
consequence: missense
filter: PASS
hgvs: p.Leu194Pro
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 148
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1700
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 280
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 862
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4621
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34317
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12979
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1072
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2681
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41610
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 343
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553663538624075e-5
allele num: 64364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.894e1

FS
type: SiteQuality
SIO_000300: 7.832e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.468768e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.191e1

VQSLOD
type: SiteQuality
SIO_000300: -1.801e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.869e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

GenotypeDepth
all individuals: 2733
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 118
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 836
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12977
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1743
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4623
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 280
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 9.75e1
variant carriers: 4

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

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

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

South Asian
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allele num: 15510
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African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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SIO_000300: 7.42e-1

BaseQRankSum
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SIO_000300: -5.49e-1

GenotypeDepth
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variant carriers: 0

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

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

Latino
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allele frequency: 2.595155709342561e-4
allele num: 11560
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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QD
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FS
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MQRankSum
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 4.92e0

ReadPosRankSum
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SIO_000300: -5.7e-1

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

European (Non-Finnish)
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allele count: 1
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allele num: 66132
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European (Finnish)
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allele num: 6612
num of homozygotes: 0

Latino
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Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -1.321e0

InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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SIO_000300: 1.0385e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
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SIO_000300: 1.727813e6

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.272e1

ReadPosRankSum
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SIO_000300: 9.8e-2

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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African
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South Asian
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QD
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
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num of homozygotes: 0

African
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num of homozygotes: 0

South Asian
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
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QD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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African
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East Asian
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ReadPosRankSum
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VQSLOD
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DP
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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South Asian
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European (Finnish)
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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FS
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ReadPosRankSum
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DP
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VQSLOD
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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FS
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QD
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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East Asian
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VQSLOD
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QD
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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European (Finnish)
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African
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -1.046e0

VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Finnish)
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South Asian
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African
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Latino
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allele num: 11576
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European (Non-Finnish)
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allele frequency: 3.165320149523695e-4
allele num: 66344
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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QD
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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East Asian
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South Asian
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ReadPosRankSum
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SIO_000300: 1.55e0

DP
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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SIO_000300: -7.5e-2

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

European (Finnish)
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African
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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QD
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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African
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Other
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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QD
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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African
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BaseQRankSum
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FS
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QD
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DP
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ReadPosRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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Other
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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DP
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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African
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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MQ
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.746588693957115e-5
allele num: 10260
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.014772384684956e-5
allele num: 66340
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -6.4e-1

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

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

European (Non-Finnish)
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allele count: 9
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num of homozygotes: 0

European (Finnish)
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South Asian
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Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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ClippingRankSum
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SIO_000300: -3.28e-1

BaseQRankSum
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FS
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QD
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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SIO_000300: 1.74e0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 1.220852154804053e-4
allele num: 16382
num of homozygotes: 0

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

Other
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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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num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

DP
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SIO_000300: 1.752686e6

BaseQRankSum
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SIO_000300: -3.294e0

ReadPosRankSum
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SIO_000300: -1.42e-1

FS
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SIO_000300: 1.794e0

VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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QD
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SIO_000300: 8.68e0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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num of homozygotes: 0

Latino
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South Asian
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European (Non-Finnish)
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allele num: 66340
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African
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East Asian
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Other
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FS
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MQ
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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Latino
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MQRankSum
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SIO_000300: -8.41e-1

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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QD
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VQSLOD
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InbreedingCoeff
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DP
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

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

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

East Asian
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Other
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VQSLOD
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SIO_000300: -1.774e0

ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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InbreedingCoeff
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FS
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SIO_000300: 1.2775e1

DP
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GenotypeDepth
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variant carriers: 0

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

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

South 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
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.536475938786798e-5
allele num: 65084
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.707739e6

MQRankSum
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SIO_000300: -5.41e-1

MQ
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SIO_000300: 5.933e1

VQSLOD
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SIO_000300: 8.080000000000001e-1

BaseQRankSum
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SIO_000300: -3.657e0

InbreedingCoeff
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SIO_000300: -1.0e-3

ClippingRankSum
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SIO_000300: 8.53e-1

ReadPosRankSum
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SIO_000300: -1.181e0

QD
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SIO_000300: 1.271e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

Other
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East Asian
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allele count: 0
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Latino
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South Asian
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MQRankSum
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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QD
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ReadPosRankSum
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.172077521293668e-5
allele num: 16202
num of homozygotes: 0

European (Finnish)
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allele count: 0
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East Asian
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African
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European (Non-Finnish)
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Other
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Latino
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DP
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 209
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variant carriers: 0

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

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

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

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

European (Finnish)
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East Asian
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African
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DP
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InbreedingCoeff
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FS
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QD
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MQRankSum
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MQ
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ClippingRankSum
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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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Other
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Latino
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East Asian
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African
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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QD
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MQ
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DP
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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East Asian
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Latino
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Other
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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VQSLOD
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ReadPosRankSum
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DP
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QD
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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South Asian
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East Asian
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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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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East Asian
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African
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allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.165988407941794e-5
allele num: 16218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.935e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.696e0

VQSLOD
type: SiteQuality
SIO_000300: -1.909e0

QD
type: SiteQuality
SIO_000300: 1.739e1

FS
type: SiteQuality
SIO_000300: 1.042e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.682571e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeDepth
all individuals: 9983
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 917
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27436
bin: 2.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 38
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2524
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1821
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 690
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1781
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 470
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1113
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12486
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8155
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38417
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2826
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2009
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1845
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560549313358302e-5
allele num: 64080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.17283950617284e-5
allele num: 16200
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.036e0

DP
type: SiteQuality
SIO_000300: 1.681837e6

QD
type: SiteQuality
SIO_000300: 1.133e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

FS
type: SiteQuality
SIO_000300: 1.663e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

GenotypeDepth
all individuals: 27439
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 470
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2519
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1787
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 690
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1808
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10059
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1107
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12479
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 347
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1845
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38640
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 405
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.120611639881417e-5
allele num: 64090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.078050884001725e-4
allele num: 9276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 3.38e0

DP
type: SiteQuality
SIO_000300: 1.68187e6

VQSLOD
type: SiteQuality
SIO_000300: -1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.121e0

QD
type: SiteQuality
SIO_000300: 2.712e1

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1