4-46252461-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252461
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252461
    reference: chr 4
allele count: 2
allele frequency: 1.649593375233005e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*654C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1235C>A
  hgvsp: ENSP00000444409.1:p.Ala412Glu
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1220C>A
  hgvsp: ENSP00000371033.4:p.Ala407Glu
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*513C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1400C>A
  hgvsp: ENSP00000427603.1:p.Ala467Glu
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1220C>A
  hgvsp: ENSP00000421300.1:p.Ala407Glu
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1220C>A
  hgvsp: ENSP00000348897.1:p.Ala407Glu
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1220C>A
  hgvsp: ENSP00000421828.1:p.Ala407Glu
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala407Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

4-46252461-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252461
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252461
    reference: chr 4
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1400C>G
  hgvsp: ENSP00000427603.1:p.Ala467Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1220C>G
  hgvsp: ENSP00000371033.4:p.Ala407Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*513C>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*654C>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1220C>G
  hgvsp: ENSP00000421828.1:p.Ala407Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1220C>G
  hgvsp: ENSP00000348897.1:p.Ala407Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1220C>G
  hgvsp: ENSP00000421300.1:p.Ala407Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1235C>G
  hgvsp: ENSP00000444409.1:p.Ala412Gly
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38290
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala407Gly
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

4-46252462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252462
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252462
    reference: chr 4
allele count: 2
allele frequency: 1.649702228747711e-5
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1219G>A
  hgvsp: ENSP00000421300.1:p.Ala407Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1399G>A
  hgvsp: ENSP00000427603.1:p.Ala467Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1219G>A
  hgvsp: ENSP00000348897.1:p.Ala407Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*512G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1219G>A
  hgvsp: ENSP00000421828.1:p.Ala407Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1219G>A
  hgvsp: ENSP00000371033.4:p.Ala407Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1234G>A
  hgvsp: ENSP00000444409.1:p.Ala412Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*653G>A
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala407Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

4-46252475-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252475
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252475
    reference: chr 4
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*640C>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1206C>G
  hgvsp: ENSP00000421828.1:p.Asn402Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1206C>G
  hgvsp: ENSP00000348897.1:p.Asn402Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1206C>G
  hgvsp: ENSP00000371033.4:p.Asn402Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1206C>G
  hgvsp: ENSP00000421300.1:p.Asn402Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1221C>G
  hgvsp: ENSP00000444409.1:p.Asn407Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*499C>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1386C>G
  hgvsp: ENSP00000427603.1:p.Asn462Lys
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn402Lys
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

4-46252479-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252479
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252479
    reference: chr 4
allele count: 3
allele frequency: 2.473043822336532e-5
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1217A>C
  hgvsp: ENSP00000444409.1:p.Glu406Ala
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1202A>C
  hgvsp: ENSP00000421828.1:p.Glu401Ala
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*495A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1382A>C
  hgvsp: ENSP00000427603.1:p.Glu461Ala
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1202A>C
  hgvsp: ENSP00000421300.1:p.Glu401Ala
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1202A>C
  hgvsp: ENSP00000348897.1:p.Glu401Ala
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1202A>C
  hgvsp: ENSP00000371033.4:p.Glu401Ala
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*636A>C
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8603
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu401Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-46252483-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252483
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252483
    reference: chr 4
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1378C>A
  hgvsp: ENSP00000427603.1:p.Pro460Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1198C>A
  hgvsp: ENSP00000371033.4:p.Pro400Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1198C>A
  hgvsp: ENSP00000421300.1:p.Pro400Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*491C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1198C>A
  hgvsp: ENSP00000348897.1:p.Pro400Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1198C>A
  hgvsp: ENSP00000421828.1:p.Pro400Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*632C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1213C>A
  hgvsp: ENSP00000444409.1:p.Pro405Thr
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro400Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

4-46252486-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252486
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252486
    reference: chr 4
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1375A>C
  hgvsp: ENSP00000427603.1:p.Lys459Gln
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*488A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1195A>C
  hgvsp: ENSP00000371033.4:p.Lys399Gln
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*629A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1195A>C
  hgvsp: ENSP00000421300.1:p.Lys399Gln
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1195A>C
  hgvsp: ENSP00000348897.1:p.Lys399Gln
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1210A>C
  hgvsp: ENSP00000444409.1:p.Lys404Gln
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1195A>C
  hgvsp: ENSP00000421828.1:p.Lys399Gln
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys399Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

4-46252488-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252488
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252488
    reference: chr 4
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1193A>C
  hgvsp: ENSP00000371033.4:p.Lys398Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1373A>C
  hgvsp: ENSP00000427603.1:p.Lys458Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*627A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1193A>C
  hgvsp: ENSP00000348897.1:p.Lys398Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*486A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1193A>C
  hgvsp: ENSP00000421828.1:p.Lys398Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1193A>C
  hgvsp: ENSP00000421300.1:p.Lys398Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1208A>C
  hgvsp: ENSP00000444409.1:p.Lys403Thr
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys398Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

4-46252490-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252490
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252490
    reference: chr 4
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1191C>G
  hgvsp: ENSP00000348897.1:p.Asn397Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1206C>G
  hgvsp: ENSP00000444409.1:p.Asn402Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1191C>G
  hgvsp: ENSP00000421300.1:p.Asn397Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1371C>G
  hgvsp: ENSP00000427603.1:p.Asn457Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*625C>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1191C>G
  hgvsp: ENSP00000421828.1:p.Asn397Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*484C>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1191C>G
  hgvsp: ENSP00000371033.4:p.Asn397Lys
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn397Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

4-46252501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252501
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252501
    reference: chr 4
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1195C>T
  hgvsp: ENSP00000444409.1:p.Pro399Ser
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1180C>T
  hgvsp: ENSP00000421828.1:p.Pro394Ser
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*614C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1360C>T
  hgvsp: ENSP00000427603.1:p.Pro454Ser
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1180C>T
  hgvsp: ENSP00000371033.4:p.Pro394Ser
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1180C>T
  hgvsp: ENSP00000348897.1:p.Pro394Ser
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1180C>T
  hgvsp: ENSP00000421300.1:p.Pro394Ser
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*473C>T
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro394Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-46252502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252502
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252502
    reference: chr 4
allele count: 2
allele frequency: 1.649158104787506e-5
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1179G>A
  hgvsp: ENST00000381620.4:c.1179G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1179G>A
  hgvsp: ENST00000514090.1:c.1179G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*613G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1359G>A
  hgvsp: ENST00000507069.1:c.1359G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1179G>A
  hgvsp: ENST00000510861.1:c.1179G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*472G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1179G>A
  hgvsp: ENST00000356504.1:c.1179G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1194G>A
  hgvsp: ENST00000540012.1:c.1194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14039
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr393Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

4-46252503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252503
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252503
    reference: chr 4
allele count: 14
allele frequency: 1.154429711722409e-4
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1178C>T
  hgvsp: ENSP00000421828.1:p.Thr393Met
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*471C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1193C>T
  hgvsp: ENSP00000444409.1:p.Thr398Met
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1178C>T
  hgvsp: ENSP00000348897.1:p.Thr393Met
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1178C>T
  hgvsp: ENSP00000421300.1:p.Thr393Met
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1178C>T
  hgvsp: ENSP00000371033.4:p.Thr393Met
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1358C>T
  hgvsp: ENSP00000427603.1:p.Thr453Met
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*612C>T
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5285
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr393Met
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

4-46252527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252527
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252527
    reference: chr 4
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1154C>T
  hgvsp: ENSP00000421300.1:p.Ser385Phe
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1169C>T
  hgvsp: ENSP00000444409.1:p.Ser390Phe
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1154C>T
  hgvsp: ENSP00000348897.1:p.Ser385Phe
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1154C>T
  hgvsp: ENSP00000421828.1:p.Ser385Phe
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1154C>T
  hgvsp: ENSP00000371033.4:p.Ser385Phe
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*588C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1334C>T
  hgvsp: ENSP00000427603.1:p.Ser445Phe
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*447C>T
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5272
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser385Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

4-46252529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252529
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252529
    reference: chr 4
allele count: 2
allele frequency: 1.651936896010573e-5
allele num: 121070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1332C>T
  hgvsp: ENST00000507069.1:c.1332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1152C>T
  hgvsp: ENST00000510861.1:c.1152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*586C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*445C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1152C>T
  hgvsp: ENST00000514090.1:c.1152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1152C>T
  hgvsp: ENST00000381620.4:c.1152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1152C>T
  hgvsp: ENST00000356504.1:c.1152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1167C>T
  hgvsp: ENST00000540012.1:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu384Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-46252535-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252535
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252535
    reference: chr 4
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1146A>G
  hgvsp: ENST00000356504.1:c.1146A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1161A>G
  hgvsp: ENST00000540012.1:c.1161A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1146A>G
  hgvsp: ENST00000510861.1:c.1146A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1146A>G
  hgvsp: ENST00000514090.1:c.1146A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*580A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1146A>G
  hgvsp: ENST00000381620.4:c.1146A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*439A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1326A>G
  hgvsp: ENST00000507069.1:c.1326A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38174
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro382Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

4-46252537-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252537
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252537
    reference: chr 4
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1159C>A
  hgvsp: ENSP00000444409.1:p.Pro387Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1144C>A
  hgvsp: ENSP00000421300.1:p.Pro382Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1324C>A
  hgvsp: ENSP00000427603.1:p.Pro442Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1144C>A
  hgvsp: ENSP00000421828.1:p.Pro382Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1144C>A
  hgvsp: ENSP00000371033.4:p.Pro382Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*437C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1144C>A
  hgvsp: ENSP00000348897.1:p.Pro382Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*578C>A
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro382Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

4-46252550-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252550
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252550
    reference: chr 4
allele count: 2
allele frequency: 1.653876686954221e-5
allele num: 120928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1131T>A
  hgvsp: ENSP00000421300.1:p.Asn377Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1131T>A
  hgvsp: ENSP00000421828.1:p.Asn377Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1146T>A
  hgvsp: ENSP00000444409.1:p.Asn382Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1131T>A
  hgvsp: ENSP00000348897.1:p.Asn377Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*565T>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1131T>A
  hgvsp: ENSP00000371033.4:p.Asn377Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1311T>A
  hgvsp: ENSP00000427603.1:p.Asn437Lys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*424T>A
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn377Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

4-46252552-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252552
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252552
    reference: chr 4
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1129A>G
  hgvsp: ENSP00000421300.1:p.Asn377Asp
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1129A>G
  hgvsp: ENSP00000348897.1:p.Asn377Asp
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1309A>G
  hgvsp: ENSP00000427603.1:p.Asn437Asp
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*422A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*563A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1129A>G
  hgvsp: ENSP00000421828.1:p.Asn377Asp
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1144A>G
  hgvsp: ENSP00000444409.1:p.Asn382Asp
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1129A>G
  hgvsp: ENSP00000371033.4:p.Asn377Asp
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn377Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

4-46252564-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252564
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252564
    reference: chr 4
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1117A>C
  hgvsp: ENSP00000421300.1:p.Asn373His
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*410A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*551A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1297A>C
  hgvsp: ENSP00000427603.1:p.Asn433His
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1117A>C
  hgvsp: ENSP00000421828.1:p.Asn373His
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1117A>C
  hgvsp: ENSP00000348897.1:p.Asn373His
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1132A>C
  hgvsp: ENSP00000444409.1:p.Asn378His
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1117A>C
  hgvsp: ENSP00000371033.4:p.Asn373His
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn373His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-46252569-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252569
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252569
    reference: chr 4
allele count: 705
allele frequency: 5.985126324368378e-3
allele num: 117792
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1112T>G
  hgvsp: ENSP00000371033.4:p.Val371Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*405T>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1292T>G
  hgvsp: ENSP00000427603.1:p.Val431Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1112T>G
  hgvsp: ENSP00000421300.1:p.Val371Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1112T>G
  hgvsp: ENSP00000348897.1:p.Val371Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1112T>G
  hgvsp: ENSP00000421828.1:p.Val371Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1127T>G
  hgvsp: ENSP00000444409.1:p.Val376Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*546T>G
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 13817
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 25201
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 9.75e1
  variant carriers: 498
genotype depth: GenotypeDepth
  all individuals: 11190
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 13
hgvs: p.Val371Gly
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

4-46252570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252570
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252570
    reference: chr 4
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1291G>A
  hgvsp: ENSP00000427603.1:p.Val431Ile
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1111G>A
  hgvsp: ENSP00000371033.4:p.Val371Ile
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1111G>A
  hgvsp: ENSP00000348897.1:p.Val371Ile
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1111G>A
  hgvsp: ENSP00000421300.1:p.Val371Ile
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*404G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1111G>A
  hgvsp: ENSP00000421828.1:p.Val371Ile
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1126G>A
  hgvsp: ENSP00000444409.1:p.Val376Ile
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*545G>A
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val371Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

4-46252580-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252580
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252580
    reference: chr 4
allele count: 2
allele frequency: 1.657302905251993e-5
allele num: 120678
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1101T>C
  hgvsp: ENST00000510861.1:c.1101T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*394T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1101T>C
  hgvsp: ENST00000356504.1:c.1101T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1116T>C
  hgvsp: ENST00000540012.1:c.1116T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1101T>C
  hgvsp: ENST00000381620.4:c.1101T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1101T>C
  hgvsp: ENST00000514090.1:c.1101T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1281T>C
  hgvsp: ENST00000507069.1:c.1281T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*535T>C
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr367Tyr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

4-46252585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252585
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252585
    reference: chr 4
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1096G>A
  hgvsp: ENSP00000348897.1:p.Ala366Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1096G>A
  hgvsp: ENSP00000421300.1:p.Ala366Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1096G>A
  hgvsp: ENSP00000371033.4:p.Ala366Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*389G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*530G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1096G>A
  hgvsp: ENSP00000421828.1:p.Ala366Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1276G>A
  hgvsp: ENSP00000427603.1:p.Ala426Thr
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1111G>A
  hgvsp: ENSP00000444409.1:p.Ala371Thr
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala366Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

4-46252586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252586
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252586
    reference: chr 4
allele count: 4
allele frequency: 3.318565715897589e-5
allele num: 120534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1095C>T
  hgvsp: ENST00000514090.1:c.1095C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1110C>T
  hgvsp: ENST00000540012.1:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1095C>T
  hgvsp: ENST00000510861.1:c.1095C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*388C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1275C>T
  hgvsp: ENST00000507069.1:c.1275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1095C>T
  hgvsp: ENST00000381620.4:c.1095C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1095C>T
  hgvsp: ENST00000356504.1:c.1095C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*529C>T
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn365Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

4-46252595-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252595
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252595
    reference: chr 4
allele count: 14
allele frequency: 1.163854019452989e-4
allele num: 120290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1086A>G
  hgvsp: ENSP00000371033.4:p.Ile362Met
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1101A>G
  hgvsp: ENSP00000444409.1:p.Ile367Met
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*379A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1086A>G
  hgvsp: ENSP00000421300.1:p.Ile362Met
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1266A>G
  hgvsp: ENSP00000427603.1:p.Ile422Met
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1086A>G
  hgvsp: ENSP00000348897.1:p.Ile362Met
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*520A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1086A>G
  hgvsp: ENSP00000421828.1:p.Ile362Met
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile362Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

4-46252603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252603
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252603
    reference: chr 4
allele count: 7
allele frequency: 5.84726932522512e-5
allele num: 119714
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1078G>A
  hgvsp: ENSP00000421828.1:p.Val360Ile
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*512G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1078G>A
  hgvsp: ENSP00000421300.1:p.Val360Ile
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1078G>A
  hgvsp: ENSP00000371033.4:p.Val360Ile
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*371G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1093G>A
  hgvsp: ENSP00000444409.1:p.Val365Ile
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1078G>A
  hgvsp: ENSP00000348897.1:p.Val360Ile
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1258G>A
  hgvsp: ENSP00000427603.1:p.Val420Ile
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10520
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val360Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

4-46252604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252604
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252604
    reference: chr 4
allele count: 4
allele frequency: 3.345264777707156e-5
allele num: 119572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1092C>T
  hgvsp: ENST00000540012.1:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1257C>T
  hgvsp: ENST00000507069.1:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1077C>T
  hgvsp: ENST00000514090.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1077C>T
  hgvsp: ENST00000510861.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*511C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1077C>T
  hgvsp: ENST00000356504.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*370C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1077C>T
  hgvsp: ENST00000381620.4:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser359Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

4-46252614-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252614
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252614
    reference: chr 4
allele count: 1
allele frequency: 8.477593719798572e-6
allele num: 117958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1247A>G
  hgvsp: ENSP00000427603.1:p.Glu416Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1082A>G
  hgvsp: ENSP00000444409.1:p.Glu361Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1067A>G
  hgvsp: ENSP00000348897.1:p.Glu356Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1067A>G
  hgvsp: ENSP00000371033.4:p.Glu356Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*360A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1067A>G
  hgvsp: ENSP00000421300.1:p.Glu356Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1067A>G
  hgvsp: ENSP00000421828.1:p.Glu356Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*501A>G
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9330
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu356Gly
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

4-46252614-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252614
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252614
    reference: chr 4
allele count: 1
allele frequency: 8.477593719798572e-6
allele num: 117958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*360A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1067A>C
  hgvsp: ENSP00000421828.1:p.Glu356Ala
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1067A>C
  hgvsp: ENSP00000348897.1:p.Glu356Ala
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1247A>C
  hgvsp: ENSP00000427603.1:p.Glu416Ala
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*501A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1067A>C
  hgvsp: ENSP00000421300.1:p.Glu356Ala
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1067A>C
  hgvsp: ENSP00000371033.4:p.Glu356Ala
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1082A>C
  hgvsp: ENSP00000444409.1:p.Glu361Ala
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu356Ala
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ

4-46252619-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252619
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252619
    reference: chr 4
allele count: 1
allele frequency: 8.558566268978621e-6
allele num: 116842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1062A>G
  hgvsp: ENST00000356504.1:c.1062A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*496A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*355A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1062A>G
  hgvsp: ENST00000510861.1:c.1062A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1242A>G
  hgvsp: ENST00000507069.1:c.1242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1062A>G
  hgvsp: ENST00000514090.1:c.1062A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1062A>G
  hgvsp: ENST00000381620.4:c.1062A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1077A>G
  hgvsp: ENST00000540012.1:c.1077A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1062A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

4-46252633-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252633
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252633
    reference: chr 4
allele count: 1
allele frequency: 8.807158458394984e-6
allele num: 113544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1240-12A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1060-12A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1060-12A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*353-12A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*494-12A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1075-12A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1060-12A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1060-12A>G
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

4-46252649-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252649
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252649
    reference: chr 4
allele count: 1
allele frequency: 9.099512266142535e-6
allele num: 109896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1060-28C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1060-28C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1060-28C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1240-28C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1060-28C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1075-28C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*353-28C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*494-28C>T
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

4-46252653-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252653
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252653
    reference: chr 4
allele count: 1
allele frequency: 9.20674670398468e-6
allele num: 108616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1060-32C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*494-32C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1240-32C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*353-32C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1060-32C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1060-32C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1075-32C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1060-32C>A
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18013
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

4-46252655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252655
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252655
    reference: chr 4
allele count: 1
allele frequency: 9.276437847866419e-6
allele num: 107800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1060-34C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*494-34C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*353-34C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1075-34C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1240-34C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1060-34C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1060-34C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1060-34C>T
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

4-46252673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46252673
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46252673
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 102688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*494-52G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1060-52G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1060-52G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1060-52G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1075-52G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1240-52G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1060-52G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*353-52G>A
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 11628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

4-46258164-ATTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46258164
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46258161
    reference: chr 4
allele count: 1
allele frequency: 3.940110323089047e-4
allele num: 2538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1074+45_1074+47delCAA
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*494-5546_*494-5544delCAA
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1239+45_1239+47delCAA
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1060-5546_1060-5544delCAA
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1060-5546_1060-5544delCAA
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*353-5546_*353-5544delCAA
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1060-5546_1060-5544delCAA
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1060-5546_1060-5544delCAA
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: ATTG
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

4-46258167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46258167
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46258167
    reference: chr 4
allele count: 1
allele frequency: 3.92156862745098e-4
allele num: 2550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1060-5546C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*353-5546C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1239+45C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1060-5546C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*494-5546C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1060-5546C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1060-5546C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1074+45C>T
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
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: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

4-46258248-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46258248
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46258248
    reference: chr 4
allele count: 1
allele frequency: 9.899029895070283e-5
allele num: 10102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1060-5627G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1203G>A
  hgvsp: ENST00000507069.1:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1060-5627G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1060-5627G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1038G>A
  hgvsp: ENST00000540012.1:c.1038G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*494-5627G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1060-5627G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*353-5627G>A
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu401Glu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

4-46258285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46258285
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46258285
    reference: chr 4
allele count: 3
allele frequency: 2.816901408450704e-4
allele num: 10650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+5658C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+5658C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1166C>T
  hgvsp: ENSP00000427603.1:p.Pro389Leu
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+5658C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+5658C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.1001C>T
  hgvsp: ENSP00000444409.1:p.Pro334Leu
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+5658C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+5658C>T
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro389Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

4-46258338-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46258338
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46258338
    reference: chr 4
allele count: 149
allele frequency: 1.408583853280393e-2
allele num: 10578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+5605A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+5605A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+5605A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1113A>C
  hgvsp: ENST00000507069.1:c.1113A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.948A>C
  hgvsp: ENST00000540012.1:c.948A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+5605A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+5605A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+5605A>C
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 9.75e1
  variant carriers: 147
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala371Ala
num of homozygotes: 2
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

4-46258384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46258384
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46258384
    reference: chr 4
allele count: 4
allele frequency: 4.663091629750524e-4
allele num: 8578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+5559C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+5559C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1067C>T
  hgvsp: ENSP00000427603.1:p.Ser356Leu
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+5559C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+5559C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.902C>T
  hgvsp: ENSP00000444409.1:p.Ser301Leu
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+5559C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+5559C>T
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser356Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

4-46258425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46258425
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46258425
    reference: chr 4
allele count: 4
allele frequency: 7.347538574577516e-4
allele num: 5444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.895-34G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+5518G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+5518G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+5518G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+5518G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1060-34G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+5518G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+5518G>A
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

4-46258426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46258426
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46258426
    reference: chr 4
allele count: 3
allele frequency: 5.537098560354374e-4
allele num: 5418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+5517C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+5517C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+5517C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.895-35C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+5517C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1060-35C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+5517C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+5517C>T
  variant of: http://identifiers.org/hgnc/4076
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

4-46263849-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263849
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263849
    reference: chr 4
allele count: 1
allele frequency: 1.761928254281486e-5
allele num: 56756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+94A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+94A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+94A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*49A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+94A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+94A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+94A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+94A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+94A>C
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/4-46263856-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263856
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263856
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 56962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*42T>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+87T>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+87T>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+87T>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+87T>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+87T>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+87T>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+87T>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+87T>G
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

4-46263857-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263857
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263857
    reference: chr 4
allele count: 1
allele frequency: 1.738948979236949e-5
allele num: 57506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*41T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+86T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+86T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+86T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+86T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+86T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+86T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+86T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+86T>C
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4011
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

4-46263858-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263858
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263858
    reference: chr 4
allele count: 54
allele frequency: 9.251644736842105e-4
allele num: 58368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+85A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+85A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*40A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+85A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+85A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+85A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+85A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+85A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+85A>C
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8215
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 10735
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3967
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

4-46263861-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263861
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263861
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 57478
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+82G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+82G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+82G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*37G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+82G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+82G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+82G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+82G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+82G>C
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-46263862-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263862
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263863
    reference: chr 4
allele count: 62637
allele frequency: 5.833100519640163e-1
allele num: 107382
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+80dupC
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*35dupC
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+80dupC
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+80dupC
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+80dupC
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+80dupC
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+80dupC
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+80dupC
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+80dupC
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8524
  bin: 2.75e1
  variant carriers: 7282
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 11860
  bin: 1.75e1
  variant carriers: 10906
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 3.25e1
  variant carriers: 3947
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 359
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 7.5e0
  variant carriers: 2674
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 10195
  bin: 1.25e1
  variant carriers: 7673
genotype depth: GenotypeDepth
  all individuals: 14787
  bin: 2.25e1
  variant carriers: 10656
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 1809
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 236
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.5e0
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 546
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.25e1
  variant carriers: 909
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.25e1
  variant carriers: 1200
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 2.75e1
  variant carriers: 673
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 5.75e1
  variant carriers: 1667
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 2.25e1
  variant carriers: 530
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 1.25e1
  variant carriers: 285
num of homozygotes: 18244
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS

4-46263864-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263864
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263864
    reference: chr 4
allele count: 63449
allele frequency: 5.840835864862377e-1
allele num: 108630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+79A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+79A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+79A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+79A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*34A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+79A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+79A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+79A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+79A>T
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 1082
genotype depth: GenotypeDepth
  all individuals: 9290
  bin: 2.75e1
  variant carriers: 7962
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 3.25e1
  variant carriers: 4553
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 283
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 7.5e0
  variant carriers: 2168
genotype depth: GenotypeDepth
  all individuals: 15151
  bin: 2.25e1
  variant carriers: 10666
genotype depth: GenotypeDepth
  all individuals: 9045
  bin: 1.25e1
  variant carriers: 6779
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 386
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 646
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 3.75e1
  variant carriers: 2227
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.5e0
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 1.75e1
  variant carriers: 10185
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 5.75e1
  variant carriers: 1666
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 7.25e1
  variant carriers: 1485
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.25e1
  variant carriers: 283
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 1009
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.75e1
  variant carriers: 335
num of homozygotes: 18493
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

4-46263875-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263875
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263875
    reference: chr 4
allele count: 1
allele frequency: 8.899172376968941e-6
allele num: 112370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+68T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*23T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+68T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+68T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+68T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+68T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+68T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+68T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+68T>C
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

4-46263878-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263878
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263878
    reference: chr 4
allele count: 1
allele frequency: 8.854572501239641e-6
allele num: 112936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+65A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+65A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+65A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+65A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+65A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+65A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*20A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+65A>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+65A>T
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

4-46263882-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263882
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263882
    reference: chr 4
allele count: 1
allele frequency: 8.783641346356545e-6
allele num: 113848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+61A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+61A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+61A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+61A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*16A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+61A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+61A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+61A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+61A>G
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26877
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6608
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

4-46263885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263885
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263885
    reference: chr 4
allele count: 1
allele frequency: 8.719460091031163e-6
allele num: 114686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+58G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+58G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+58G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+58G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+58G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+58G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+58G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+58G>A
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

4-46263889-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263889
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263889
    reference: chr 4
allele count: 9
allele frequency: 7.754743317996174e-5
allele num: 116058
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+54G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+54G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+54G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+54G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+54G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+54G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+54G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+54G>A
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

4-46263890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263890
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263890
    reference: chr 4
allele count: 13
allele frequency: 1.115171479060511e-4
allele num: 116574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+53C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+53C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+53C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+53C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+53C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+53C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+53C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+53C>T
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15452
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

4-46263896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263896
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263896
    reference: chr 4
allele count: 1
allele frequency: 8.467113730271625e-6
allele num: 118104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+47G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+47G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+47G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+47G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+47G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+47G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*2G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+47G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+47G>A
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

4-46263897-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263897
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263897
    reference: chr 4
allele count: 1
allele frequency: 8.450799445627557e-6
allele num: 118332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+46T>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+46T>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.*1T>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+46T>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+46T>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+46T>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+46T>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+46T>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+46T>A
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-46263900-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263900
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263900
    reference: chr 4
allele count: 1
allele frequency: 8.417083312290625e-6
allele num: 118806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+43T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+43T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+43T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+43T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.1102T>C
  hgvsp: ENSP00000423840.1:p.Ter368GlnextTer1
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+43T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+43T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+43T>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+43T>C
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ter368GlnextTer1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

4-46263901-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263901
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263901
    reference: chr 4
allele count: 1
allele frequency: 8.405480373203328e-6
allele num: 118970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+42C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.1101C>A
  hgvsp: ENST00000515082.1:c.1101C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+42C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+42C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+42C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+42C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+42C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+42C>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+42C>A
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16465
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31824
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro367Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

4-46263903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263903
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263903
    reference: chr 4
allele count: 1
allele frequency: 8.381808123648433e-6
allele num: 119306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+40C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+40C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+40C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+40C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+40C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.1099C>T
  hgvsp: ENSP00000423840.1:p.Pro367Ser
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+40C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+40C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+40C>T
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro367Ser
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: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

4-46263904-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263904
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263904
    reference: chr 4
allele count: 1
allele frequency: 8.380824673147837e-6
allele num: 119320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+39A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+39A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+39A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+39A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+39A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+39A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.1098A>G
  hgvsp: ENSP00000423840.1:p.Ile366Met
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+39A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+39A>G
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile366Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

4-46263916-AATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263916
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263913
    reference: chr 4
allele count: 1
allele frequency: 8.311032063961702e-6
allele num: 120322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+24_1059+26delCAT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+24_1059+26delCAT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.1083_1085delCAT
  hgvsp: ENSP00000423840.1:p.Ile363del
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+24_*352+26delCAT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+24_1059+26delCAT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+24_1059+26delCAT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+24_894+26delCAT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+24_1059+26delCAT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+24_*493+26delCAT
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile363del
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: AATG
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

4-46263926-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263926
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263926
    reference: chr 4
allele count: 2
allele frequency: 1.655930715858849e-5
allele num: 120778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+17G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+17G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+17G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+17G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.1076G>A
  hgvsp: ENSP00000423840.1:p.Arg359His
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+17G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+17G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+17G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+17G>A
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg359His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

4-46263927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263927
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263927
    reference: chr 4
allele count: 8
allele frequency: 6.619776582540339e-5
allele num: 120850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.1075C>T
  hgvsp: ENSP00000423840.1:p.Arg359Cys
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+16C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+16C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+16C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+16C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+16C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+16C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+16C>T
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+16C>T
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Arg359Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-46263932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263932
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263932
    reference: chr 4
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+11G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+11G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+11G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.1070G>A
  hgvsp: ENSP00000423840.1:p.Ser357Asn
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+11G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+11G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+11G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+11G>A
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+11G>A
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser357Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

4-46263933-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263933
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263933
    reference: chr 4
allele count: 2
allele frequency: 1.652674026574998e-5
allele num: 121016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+10A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+10A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.1069A>G
  hgvsp: ENSP00000423840.1:p.Ser357Gly
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+10A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+10A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+10A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+10A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+10A>G
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+10A>G
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser357Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

4-46263933-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263933
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263933
    reference: chr 4
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+10A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+10A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.1069A>C
  hgvsp: ENSP00000423840.1:p.Ser357Arg
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+10A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+10A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+10A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+10A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+10A>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+10A>C
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser357Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

4-46263934-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263934
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263934
    reference: chr 4
allele count: 3
allele frequency: 2.478888136041381e-5
allele num: 121022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+9G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+9G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+9G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+9G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+9G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+9G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+9G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+9G>C
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.1068G>C
  hgvsp: ENSP00000423840.1:p.Glu356Asp
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu356Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

4-46263936-CACTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263936
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 46263932
    reference: chr 4
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000423840
  ensembl transcript: ENST00000515082
  gene symbol: GABRA2
  hgvsc: ENST00000515082.1:c.1062_1065delAAGT
  hgvsp: ENSP00000423840.1:p.Ser355ArgfsTer18
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000427603
  ensembl transcript: ENST00000507069
  gene symbol: GABRA2
  hgvsc: ENST00000507069.1:c.1059+3_1059+6delAAGT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421639
  ensembl transcript: ENST00000513005
  gene symbol: GABRA2
  hgvsc: ENST00000513005.1:c.*493+3_*493+6delAAGT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000444409
  ensembl transcript: ENST00000540012
  gene symbol: GABRA2
  hgvsc: ENST00000540012.1:c.894+3_894+6delAAGT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000371033
  ensembl transcript: ENST00000381620
  gene symbol: GABRA2
  hgvsc: ENST00000381620.4:c.1059+3_1059+6delAAGT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000348897
  ensembl transcript: ENST00000356504
  gene symbol: GABRA2
  hgvsc: ENST00000356504.1:c.1059+3_1059+6delAAGT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421828
  ensembl transcript: ENST00000510861
  gene symbol: GABRA2
  hgvsc: ENST00000510861.1:c.1059+3_1059+6delAAGT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000421300
  ensembl transcript: ENST00000514090
  gene symbol: GABRA2
  hgvsc: ENST00000514090.1:c.1059+3_1059+6delAAGT
  variant of: http://identifiers.org/hgnc/4076
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151834
  ensembl protein: ENSP00000422642
  ensembl transcript: ENST00000510233
  gene symbol: GABRA2
  hgvsc: ENST00000510233.1:c.*352+3_*352+6delAAGT
  variant of: http://identifiers.org/hgnc/4076
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser355ArgfsTer18
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: CACTT
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

4-46263949-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46263949
allele count: 2
allele frequency: 1.651036851142517e-5
allele num: 121136
alternate allele: G
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Asn351Asn
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5288
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 891
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.061e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

QD
type: SiteQuality
SIO_000300: 1.811e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.885181e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.77e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5288
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8593
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.061e0

QD
type: SiteQuality
SIO_000300: 1.811e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

DP
type: SiteQuality
SIO_000300: 1.885181e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.77e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38297
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8591
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5287
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.716875871687587e-5
allele num: 11472
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.827e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.88e-2

FS
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.068e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.884907e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38312
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variant carriers: 0

GenotypeQuality
all individuals: 2477
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variant carriers: 0

GenotypeQuality
all individuals: 5285
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 675
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.308e0

QD
type: SiteQuality
SIO_000300: 1.436e1

DP
type: SiteQuality
SIO_000300: 1.885114e6

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38307
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5285
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 674
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 1.885564e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e0

FS
type: SiteQuality
SIO_000300: 1.739e0

QD
type: SiteQuality
SIO_000300: 1.331e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.057e0

GenotypeQuality
all individuals: 2475
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.904e1

FS
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.153e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

DP
type: SiteQuality
SIO_000300: 1.884977e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

QD
type: SiteQuality
SIO_000300: 1.019e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.825e1

FS
type: SiteQuality
SIO_000300: 7.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.176e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -1.011e0

DP
type: SiteQuality
SIO_000300: 1.885189e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

GenotypeQuality
all individuals: 672
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5283
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.704e0

FS
type: SiteQuality
SIO_000300: 5.237e0

DP
type: SiteQuality
SIO_000300: 1.885428e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: -1.793e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-1

QD
type: SiteQuality
SIO_000300: 5.16e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

FS
type: SiteQuality
SIO_000300: 3.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.739e-1

DP
type: SiteQuality
SIO_000300: 1.885224e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.783e1

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.314e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.274e1

DP
type: SiteQuality
SIO_000300: 1.885022e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 5279
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.513e0

QD
type: SiteQuality
SIO_000300: 1.241e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.44e-1

DP
type: SiteQuality
SIO_000300: 1.88523e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.993e1

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 889
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.799208348326736e-4
allele num: 66696
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.886561e6

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.883779e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.466e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.097e0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

FS
type: SiteQuality
SIO_000300: 3.53e0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.924557351809084e-4
allele num: 10392
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.327e1

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.883888e6

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.151e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.451e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 1.883067e6

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.466e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.884e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5270
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.909e0

DP
type: SiteQuality
SIO_000300: 1.883003e6

QD
type: SiteQuality
SIO_000300: 1.225e1

FS
type: SiteQuality
SIO_000300: 1.307e0

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.759e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.927153594141453e-4
allele num: 10378
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.058e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.880897e6

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

QD
type: SiteQuality
SIO_000300: 1.36e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 5269
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e0

FS
type: SiteQuality
SIO_000300: 1.786e0

DP
type: SiteQuality
SIO_000300: 1.880531e6

MQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.722e0

QD
type: SiteQuality
SIO_000300: 1.335e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.592e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 243
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

FS
type: SiteQuality
SIO_000300: 6.246e0

VQSLOD
type: SiteQuality
SIO_000300: -1.368e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

DP
type: SiteQuality
SIO_000300: 1.878284e6

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.25e-1

QD
type: SiteQuality
SIO_000300: 6.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.729e0

GenotypeQuality
all individuals: 37703
bin: 6.25e1
variant carriers: 16

GenotypeQuality
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variant carriers: 15

GenotypeQuality
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variant carriers: 31

GenotypeQuality
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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variant carriers: 18

GenotypeQuality
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variant carriers: 32

GenotypeQuality
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variant carriers: 17

GenotypeQuality
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bin: 5.75e1
variant carriers: 24

GenotypeQuality
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variant carriers: 27

GenotypeQuality
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variant carriers: 395

GenotypeQuality
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variant carriers: 25

GenotypeQuality
all individuals: 804
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variant carriers: 19

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 12

Other
type: Population
allele count: 14
allele frequency: 1.594533029612756e-2
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.152482269503546e-3
allele num: 11280
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 170
allele frequency: 2.771437887186175e-2
allele num: 6134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 393
allele frequency: 6.069310600444774e-3
allele num: 64752
num of homozygotes: 0

African
type: Population
allele count: 95
allele frequency: 9.785743716522455e-3
allele num: 9708
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.222222222222222e-3
allele num: 8550
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.698e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.917e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 1.10387e2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

QD
type: SiteQuality
SIO_000300: 7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

DP
type: SiteQuality
SIO_000300: 1.99148e6

GenotypeQuality
all individuals: 272
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2498
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GenotypeQuality
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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: 8812
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.824596e6

VQSLOD
type: SiteQuality
SIO_000300: -2.654e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.452e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.916e1

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2491
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

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

GenotypeQuality
all individuals: 38868
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GenotypeQuality
all individuals: 3923
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

FS
type: SiteQuality
SIO_000300: 5.429e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

DP
type: SiteQuality
SIO_000300: 1.822356e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

GenotypeQuality
all individuals: 8797
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 467
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GenotypeQuality
all individuals: 12
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 661
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GenotypeQuality
all individuals: 1652
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506931886678722e-5
allele num: 66360
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.209e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.821168e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507386192342478e-5
allele num: 66340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.495688650664181e-4
allele num: 8582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.061e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

DP
type: SiteQuality
SIO_000300: 1.82092e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 19
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GenotypeQuality
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GenotypeQuality
all individuals: 3919
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
all individuals: 889
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GenotypeQuality
all individuals: 8770
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

Latino
type: Population
allele count: 12
allele frequency: 1.060445387062566e-3
allele num: 11316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510254628930438e-5
allele num: 66214
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.26e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.816706e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

GenotypeQuality
all individuals: 8724
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variant carriers: 0

GenotypeQuality
all individuals: 1648
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GenotypeQuality
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GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 3911
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GenotypeQuality
all individuals: 137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2727
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variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516760200212346e-5
allele num: 65930
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.768659356207994e-4
allele num: 11308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.522780648191639e-4
allele num: 8516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.12294881214793e-5
allele num: 16332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

DP
type: SiteQuality
SIO_000300: 1.806359e6

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.072935960890293e-5
allele num: 65866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.783e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

DP
type: SiteQuality
SIO_000300: 1.803995e6

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.343567622430856e-5
allele num: 15764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65192
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

QD
type: SiteQuality
SIO_000300: 1.638e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

FS
type: SiteQuality
SIO_000300: 5.303e0

VQSLOD
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 1.775074e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533930543624985e-5
allele num: 65192
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

DP
type: SiteQuality
SIO_000300: 1.775074e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

FS
type: SiteQuality
SIO_000300: 5.303e0

QD
type: SiteQuality
SIO_000300: 1.638e1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.20918984280532e-4
allele num: 8270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15310
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.411e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.47e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -2.02e-2

DP
type: SiteQuality
SIO_000300: 1.752848e6

QD
type: SiteQuality
SIO_000300: 1.489e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1613
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577137810301864e-5
allele num: 63406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.78e-1

DP
type: SiteQuality
SIO_000300: 1.678096e6

QD
type: SiteQuality
SIO_000300: 1.548e1

VQSLOD
type: SiteQuality
SIO_000300: -2.003e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10906
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61782
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7648
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.067463706233988e-4
allele num: 9368
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.379e1

VQSLOD
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.538e0

DP
type: SiteQuality
SIO_000300: 1.546008e6

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

QD
type: SiteQuality
SIO_000300: 1.058e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.064e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 921
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10866
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.634360801490537e-5
allele num: 61186
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.411e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-1

MQ
type: SiteQuality
SIO_000300: 4.072e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.68e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.904e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 1
allele frequency: 1.228501228501228e-3
allele num: 814
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12206
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.358e1

MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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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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European (Finnish)
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BaseQRankSum
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MQ
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FS
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ReadPosRankSum
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DP
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-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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European (Finnish)
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Other
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QD
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MQ
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DP
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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FS
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MQ
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 2398
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South Asian
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BaseQRankSum
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QD
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VQSLOD
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MQ
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DP
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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Latino
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African
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 7468
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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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African
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European (Finnish)
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allele frequency: NaN
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QD
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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African
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European (Non-Finnish)
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South Asian
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Latino
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MQ
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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African
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South Asian
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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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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InbreedingCoeff
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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FS
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DP
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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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bin: 2.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 1783
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.910584638899503e-4
allele num: 5234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3754
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.35e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.877e1

VQSLOD
type: SiteQuality
SIO_000300: -2.267e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.51e-1

DP
type: SiteQuality
SIO_000300: 9.95858e5

GenotypeQuality
all individuals: 10504
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5104
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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SIO_000300: 2.196e1

VQSLOD
type: SiteQuality
SIO_000300: -3.606e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

MQ
type: SiteQuality
SIO_000300: 5.572e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.26115314375163e-5
allele num: 30664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.437e0

VQSLOD
type: SiteQuality
SIO_000300: -1.618e0

QD
type: SiteQuality
SIO_000300: 9.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.177e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.064872e6

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 52
allele frequency: 1.664959016393443e-3
allele num: 31232
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.697599136768276e-4
allele num: 7414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.532e0

DP
type: SiteQuality
SIO_000300: 1.070423e6

VQSLOD
type: SiteQuality
SIO_000300: -7.007e-1

MQ
type: SiteQuality
SIO_000300: 5.521e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

QD
type: SiteQuality
SIO_000300: 1.542e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4328
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3998
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7296
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.112945e6

MQ
type: SiteQuality
SIO_000300: 6.134e1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 1.748e1

VQSLOD
type: SiteQuality
SIO_000300: -1.103e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.77e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 1747
bin: 3.25e1
variant carriers: 629

GenotypeQuality
all individuals: 1855
bin: 5.25e1
variant carriers: 1705

GenotypeQuality
all individuals: 1650
bin: 7.25e1
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GenotypeQuality
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variant carriers: 810

GenotypeQuality
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GenotypeQuality
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variant carriers: 1048

GenotypeQuality
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GenotypeQuality
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variant carriers: 1088

GenotypeQuality
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variant carriers: 1217

GenotypeQuality
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GenotypeQuality
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variant carriers: 1686

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 638
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GenotypeQuality
all individuals: 30807
bin: 9.75e1
variant carriers: 30386

Latino
type: Population
allele count: 4936
allele frequency: 4.687559354226021e-1
allele num: 10530
num of homozygotes: 1074

Other
type: Population
allele count: 522
allele frequency: 6.319612590799032e-1
allele num: 826
num of homozygotes: 152

South Asian
type: Population
allele count: 12084
allele frequency: 7.674329988568526e-1
allele num: 15746
num of homozygotes: 4601

European (Non-Finnish)
type: Population
allele count: 34872
allele frequency: 5.93384154641982e-1
allele num: 58768
num of homozygotes: 9942

African
type: Population
allele count: 2689
allele frequency: 3.270493797129652e-1
allele num: 8222
num of homozygotes: 378

European (Finnish)
type: Population
allele count: 3535
allele frequency: 5.761082138200783e-1
allele num: 6136
num of homozygotes: 1013

East Asian
type: Population
allele count: 3999
allele frequency: 5.589879787531451e-1
allele num: 7154
num of homozygotes: 1084

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.32e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-2

QD
type: SiteQuality
SIO_000300: 3.12e1

DP
type: SiteQuality
SIO_000300: 1.312608e6

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 1050

GenotypeQuality
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variant carriers: 1088

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 630

GenotypeQuality
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variant carriers: 235

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1200

GenotypeQuality
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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: 1037
bin: 7.75e1
variant carriers: 808

Other
type: Population
allele count: 529
allele frequency: 6.342925659472423e-1
allele num: 834
num of homozygotes: 156

South Asian
type: Population
allele count: 12193
allele frequency: 7.682081653225806e-1
allele num: 15872
num of homozygotes: 4646

European (Finnish)
type: Population
allele count: 3564
allele frequency: 5.766990291262136e-1
allele num: 6180
num of homozygotes: 1022

European (Non-Finnish)
type: Population
allele count: 35385
allele frequency: 5.943063486731609e-1
allele num: 59540
num of homozygotes: 10097

East Asian
type: Population
allele count: 4071
allele frequency: 5.60126582278481e-1
allele num: 7268
num of homozygotes: 1102

African
type: Population
allele count: 2740
allele frequency: 3.287736981041517e-1
allele num: 8334
num of homozygotes: 386

Latino
type: Population
allele count: 4967
allele frequency: 4.684965100924354e-1
allele num: 10602
num of homozygotes: 1084

DP
type: SiteQuality
SIO_000300: 1.368951e6

VQSLOD
type: SiteQuality
SIO_000300: 2.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.27e-2

QD
type: SiteQuality
SIO_000300: 2.987e1

MQ
type: SiteQuality
SIO_000300: 6.001e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1186
bin: 8.25e1
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
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African
type: Population
allele count: 1
allele frequency: 1.136880400181901e-4
allele num: 8796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.995e1

FS
type: SiteQuality
SIO_000300: 3.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.418247e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.076e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.752e0

GenotypeQuality
all individuals: 1280
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2465
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GenotypeQuality
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GenotypeQuality
all individuals: 617
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GenotypeQuality
all individuals: 3836
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 143
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GenotypeQuality
all individuals: 6437
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GenotypeQuality
all individuals: 624
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GenotypeQuality
all individuals: 1890
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GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.613319566339701e-5
allele num: 61984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16028
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.146e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

DP
type: SiteQuality
SIO_000300: 1.437574e6

MQRankSum
type: SiteQuality
SIO_000300: -8.23e-1

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

GenotypeQuality
all individuals: 723
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1891
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62470
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.096731739416539e-4
allele num: 9118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16106
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

FS
type: SiteQuality
SIO_000300: 2.847e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.039e1

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

DP
type: SiteQuality
SIO_000300: 1.469057e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

QD
type: SiteQuality
SIO_000300: 1.185e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
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variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62978
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.563477173233271e-4
allele num: 6396
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.7e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.495103e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.275e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.31e-1

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.863676653075696e-5
allele num: 11282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.568775100401606e-5
allele num: 63744
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.311406750431141e-4
allele num: 16236
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 2.288e1

FS
type: SiteQuality
SIO_000300: 3.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.231e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.282e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

DP
type: SiteQuality
SIO_000300: 1.52366e6

GenotypeQuality
all individuals: 830
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 38803
bin: 6.25e1
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GenotypeQuality
all individuals: 555
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56128024980484e-5
allele num: 64050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.492908683752177e-3
allele num: 8038
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

DP
type: SiteQuality
SIO_000300: 1.53497e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40542
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 23
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2880
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variant carriers: 1

GenotypeQuality
all individuals: 433
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variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9862
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540262460723307e-5
allele num: 64924
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.187e0

DP
type: SiteQuality
SIO_000300: 1.558217e6

MQ
type: SiteQuality
SIO_000300: 5.827e1

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.61e-1

QD
type: SiteQuality
SIO_000300: 1.169e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

GenotypeQuality
all individuals: 111
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 637
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GenotypeQuality
all individuals: 7268
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GenotypeQuality
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GenotypeQuality
all individuals: 121
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 188
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GenotypeQuality
all individuals: 40788
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GenotypeQuality
all individuals: 559
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GenotypeQuality
all individuals: 1443
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536853752996865e-5
allele num: 65068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 1.279e0

VQSLOD
type: SiteQuality
SIO_000300: -1.755e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.561309e6

QD
type: SiteQuality
SIO_000300: 1.491e1

MQ
type: SiteQuality
SIO_000300: 5.896e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 18
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 290
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GenotypeQuality
all individuals: 635
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530362389813908e-5
allele num: 65344
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e0

VQSLOD
type: SiteQuality
SIO_000300: -7.137e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.18e-1

DP
type: SiteQuality
SIO_000300: 1.569483e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 7.46e0

GenotypeQuality
all individuals: 106
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 92
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GenotypeQuality
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GenotypeQuality
all individuals: 559
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GenotypeQuality
all individuals: 635
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528350909368791e-5
allele num: 65430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.809e0

QD
type: SiteQuality
SIO_000300: 7.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.572564e6

VQSLOD
type: SiteQuality
SIO_000300: -6.223e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523786304208698e-5
allele num: 65626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

DP
type: SiteQuality
SIO_000300: 1.57728e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.378e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.874e0

MQ
type: SiteQuality
SIO_000300: 6.012e1

QD
type: SiteQuality
SIO_000300: 1.131e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.199040767386091e-4
allele num: 8340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.933e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.833e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 1.6088e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.689e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

DP
type: SiteQuality
SIO_000300: 1.585966e6

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.232e1

DP
type: SiteQuality
SIO_000300: 1.593846e6

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.583e0

FS
type: SiteQuality
SIO_000300: 6.606e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e0

MQ
type: SiteQuality
SIO_000300: 5.7e1

GenotypeQuality
all individuals: 257
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 559
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variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

FS
type: SiteQuality
SIO_000300: 7.355e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.599869e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.781e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 7
allele frequency: 8.204406938584154e-4
allele num: 8532
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.601578e6

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

FS
type: SiteQuality
SIO_000300: 6.7e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.668e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 1.0395e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.013e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.601869e6

QD
type: SiteQuality
SIO_000300: 2.7e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.737317581653926e-4
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.602291e6

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

FS
type: SiteQuality
SIO_000300: 4.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 6.019e1

QD
type: SiteQuality
SIO_000300: 1.267e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 175
bin: 2.25e1
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GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.602291e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.92e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.019e1

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005530175522962e-5
allele num: 66544
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.471e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 3.199e0

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.89e-1

DP
type: SiteQuality
SIO_000300: 1.602321e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2883
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 7.29e0

MQ
type: SiteQuality
SIO_000300: 6.009e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 7.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

DP
type: SiteQuality
SIO_000300: 1.602544e6